Carbon Chemist

Tag: Autism

  • UC Riverside professor receives NIH grant for neurodevelopmental disorder study

    UC Riverside professor receives NIH grant for neurodevelopmental disorder study

    [ad_1]

    Iryna Ethell, a professor of biomedical sciences in the School of Medicine at the University of California, Riverside, has been awarded a five-year grant of $2.4 million from the National Institutes of Health to study mechanisms of hyperexcitability and seizures in neurodevelopmental disorders such as such as attention-deficit/hyperactivity disorder and autism.

    In this project we will address critical gaps in our knowledge, such as what role do astrocytes play in inhibitory synapse development in the hippocampus. We expect our work will lead to the development of novel therapeutic targets to treat neurodevelopmental disorders, including autism spectrum disorder, schizophrenia, and epilepsy.”

    Iryna Ethell, professor of biomedical sciences, School of Medicine, University of California, Riverside

    Astrocytes are star-shaped cells in the brain that are actively involved in brain function. They regulate synaptic connections between neurons. Each neuron in the brain receives numerous excitatory and inhibitory synaptic inputs. The balance between excitation and inhibition in neuronal circuits can play a role in causing many neurological disorders.

    Ethell’s lab has studied a protein called ephrin-B1, which spans the membrane surrounding the cell and plays a role in maintaining the nervous system. Preliminary findings from her lab show that loss of astrocytic ephrin-B1 increases susceptibility to seizures and reduces sociability in mice. 

    EphB receptor signaling is a cellular pathway that regulates many developmental processes and is necessary for distributing and organizing synapses. Ethell explained that ephrin-B/EphB receptor signaling in the brain controls the development of inhibitory networks, that control brain excitability in a timely and special manner to ensure orderly brain functions and preventing seizures. 

    “If you compare the brain to driving a car, your excitatory network is a gas pedal that initiates the brain responses, but inhibitory networks are the brakes to ensure it does not crash,” Ethell said.

    The research will use mouse models as well as state-of-art analysis and imaging approaches.

    “We think this project will further our understanding of the mechanisms which lead to neurodevelopmental disorders and will allow us to discover novel interventions for treating these disorders by fixing abnormal inhibitory networks,” Ethell said.

    Source:

    University of California – Riverside

    [ad_2]

    Source link

  • NIH funds study on neural mechanisms behind autism and sound sensitivity

    NIH funds study on neural mechanisms behind autism and sound sensitivity

    [ad_1]

    Supported by a $2 million R01 grant from the National Institutes of Health, the Auerbach Lab at the Beckman Institute for Advanced Science and Technology will examine how different genes associated with autism spectrum disorders may similarly impact our brain’s neurons, resulting in heightened sensitivity to sounds.

    Autism spectrum disorders are genetically complex, and hundreds of genes are implicated in their development. As a result, some may conclude that autism is a collection of disconnected disorders with comparable symptoms. However, much like how roads converge as they approach a destination, at some level of brain function there may be bottlenecks: points at which different genes lead to the same effects within the brain and ultimately result in similar symptoms.

    You have this really big constellation of clinical symptoms -; of phenotypes -; on one side, and tons of genes interacting on the other side.”


    Benjamin Auerbach, lead investigator, assistant professor of molecular and integrative physiology at the University of Illinois Urbana-Champaign

    “The question is: How do we get from point A to point B? In particular, how many different routes are there to possibly take?”

    In previous research, Auerbach found that the two most common genetic mutations associated with ASD have opposite effects at the cellular level despite resulting in similar symptoms. The grant-funded project will explore whether these similarities may instead be due to a shared mechanism at the level of neural circuits.

    Auerbach and his team will focus on the auditory system, as sensory hypersensitivities are common in ASD and can strongly affect individuals’ quality of life.

    Someone who experiences auditory hypersensitivity has difficulty processing sound information. This is especially true in settings like shopping malls, schools, or public transportation, which are often busy, loud, and require individuals to filter out an overabundance of noise and other sensory input. Auditory hypersensitivity has been described as physically painful, impairs individuals’ abilities to focus, and can make it difficult to interact with the environment and with other people.

    Groups of neurons connect and communicate with each other by passing signals through synapses, which can be excitatory or inhibitory. Excitatory synapses amplify signals, while inhibitory synapses dampen them. Typically, a precise balance exists between the numbers of excitatory and inhibitory synapses within a neural circuit, and having an imbalance may lead to hyperexcitability -; which in the case of auditory circuits could overamplify sound information.

    This project will test whether the two most common ASD-related gene mutations lead to this kind of imbalance.

    The project will focus on dysregulation of a specific type of inhibitory interneuron, parvalbumin-positive, or PV+, interneurons, as a potentially shared mechanism. PV+ interneurons are potent regulators of the sensitivity and activity of excitatory neurons. When their function isn’t properly controlled, individuals may be more sensitive to sounds perceived by others at a normal volume.

    The researchers will use rat models to explore how the brain reacts to sound stimuli, and how this may change with different ASD-related gene mutations. The team will use in-vivo electrophysiology to record the electrical activity from populations of auditory neurons in these rat models. This activity can be associated with behavioral changes in response to a stimulus such as playing sounds.

    Additionally, the group will collaborate with Beckman researcher Howard Gritton, an assistant professor of comparative biosciences and bioengineering, to use optogenetics: a method to control cell activity with light. Neurons in a specific brain region can be engineered to activate in the presence of blue light. For example, researchers can target and activate PV+ neurons to test whether this alleviates auditory hypersensitivity symptoms in rats.

    If activating PV+ neurons is shown to reduce auditory overload, the researchers hope to use that information to develop treatments. For example, the team aims to show that minocycline, a drug which manipulates PV+ interneurons, may be a potential treatment for sensory hypersensitivity.

    Methods and results from this study may also help with identification and diagnosis of sensory issues. Methods used to gauge the response of rats to sound could be a basis for tools to quantitatively measure sensory hypersensitivity in humans, for use in clinical trials.

    In addition, this research seeks to identify a biomarker for sensory hypersensitivity -; in this case, a brain signal which could be measured through an EEG -; which could be used as a clinical screening tool. Many past studies which identified potential treatments for sensory overload using animal models have not translated well to humans, and finding such a biomarker may assist with this.

    “One reason for this is a lack of these behavioral and electrophysiological biomarkers that can translate between animals and humans in a very straightforward way,” Auerbach said. “Sensory systems have the potential to be a really good tool to try and provide that bridge.”

    Source:

    Beckman Institute for Advanced Science and Technology

    [ad_2]

    Source link

  • Eye movement reflex reveals genetic association with autism

    Eye movement reflex reveals genetic association with autism

    [ad_1]

    Scientists at UC San Francisco may have discovered a new way to test for autism by measuring how children’s eyes move when they turn their heads.

    They found that kids who carry a variant of a gene that is associated with severe autism are hypersensitive to this motion.

    The gene, SCN2A, makes an ion channel that is found throughout the brain, including the region that coordinates movement, called the cerebellum. Ion channels allow electrical charges in and out of cells and are fundamental to how they function. Several variants of this gene are also associated with severe epilepsy and intellectual disability. 

    The researchers found that children with these variants have an unusual form of the reflex that stabilizes the gaze while the head is moving, called the vestibulo-ocular reflex (VOR). In children with autism, it seems to go overboard, and this can be measured with a simple eye-tracking device.

    The discovery could help to advance research on autism, which affects 1 out of every 36 children in the United States. And it could help to diagnose kids earlier and faster with a method that only requires them to don a helmet and sit in a chair.

    “We can measure it in kids with autism who are non-verbal or can’t or don’t want to follow instructions,” said Kevin Bender, PhD, a professor in the UCSF Weill Institute for Neurosciences and co-senior author of the study, which appears Feb. 26 in Neuron. “This could be a game-changer in both the clinic and the lab.” 

    A telltale sign of autism in an eye reflex 

    Of the hundreds of gene mutations associated with autism, variants of the SCN2A gene are among the most common.

    Since autism affects social communication, ion channel experts like Bender had focused on the frontal lobe of the brain, which governs language and social skills in people. But mice with an autism-associated variant of the SCN2A gene did not display marked behavioral differences associated with this brain region.

    Chenyu Wang, a UCSF graduate student in Bender’s lab and first author of the study, decided to look at what the SCN2A variant was doing in the mouse cerebellum. Guy Bouvier, PhD, a cerebellum expert at UCSF and co-senior author of the paper, already had the equipment needed to test behaviors influenced by the cerebellum, like the VOR. 

    The VOR is easy to provoke. Shake your head and your eyes will stay roughly centered. In mice with the SCN2A variant, however, the researchers discovered that this reflex was unusually sensitive. When these mice were rotated in one direction, their eyes compensated perfectly, rotating in the opposite direction. 

    But this increased sensitivity came at a cost. Normally, neural circuits in the cerebellum can refine the reflex when needed, for example to enable the eyes to focus on a moving object while the head is also moving. In SCN2A mice, however, these circuits got stuck, making the reflex rigid. 

    A mouse result translates nearly perfectly to kids with autism 

    Wang and Bender had uncovered something rare: a behavior that arose from a variant to the SCN2A gene that was easy to measure in mice. But would it work in people?

    They decided to test it with an eye-tracking camera mounted on a helmet. It was a “shot in the dark,” Wang said, given that the two scientists had never conducted a study in humans. 

    Bender asked several families from the FamilieSCN2A Foundation, the major family advocacy group for children with SCN2A variants in the US, to participate. Five children with SCN2A autism and eleven of their neurotypical siblings volunteered.

    Wang and Bender took turns rotating the children to the left and right in an office chair to the beat of a metronome. The VOR was hypersensitive in the children with autism, but not in their neurotypical siblings.

    The scientists could tell which children had autism just by measuring how much their eyes moved in response to their head rotation. 

    A CRISPR cure in mice

     The scientists also wanted to see if they could restore the normal eye reflex in the mice with a CRISPR-based technology that restored SCN2A gene expression in the cerebellum. 

    When they treated 30-day-old SCN2A mice – equivalent to late adolescence in humans – their VOR became less rigid but was still unusually sensitive to body motion. But when they treated 3-day-old SCN2A mice – early childhood in humans – their eye reflexes were completely normal. 

    These first results, using this reflex as our proxy for autism, point to an early window for future therapies that get the developing brain back on track.”

    Chenyu Wang, UCSF graduate student

    It’s too early to say whether such an approach might someday be used to directly treat autism. But the eye reflex test, on its own, could clear the way to more expedient autism diagnosis for kids today, saving families from long diagnostic odysseys.

    “If this sort of assessment works in our hands, with kids with profound, nonverbal autism, there really is hope it could be more widely adopted,” Bender said.

    Source:

    University of California – San Francisco

    Journal reference:

    Wang, C., et al. (2024). Impaired cerebellar plasticity hypersensitizes sensory reflexes in SCN2A-associated ASD. Neuron. doi.org/10.1016/j.neuron.2024.01.029.

    [ad_2]

    Source link

  • Are robots easier to interact with than humans for people with Autism Spectrum Disorder?

    Are robots easier to interact with than humans for people with Autism Spectrum Disorder?

    [ad_1]

    In a recent review published in Behavioral Science, researchers summarized the current evidence regarding whether people with Autism Spectrum Disorder (ASD) find it easier to interact with robot partners than human partners.

    They concluded that interacting with robots may be easier because they can provide motivation, and their behavior is easier to predict than that of humans.

    Study: People with Autism Spectrum Disorder Could Interact More Easily with a Robot than with a Human: Reasons and Limits. Image Credit: Irina Wilhauk/Shutterstock.comStudy: People with Autism Spectrum Disorder Could Interact More Easily with a Robot than with a Human: Reasons and Limits. Image Credit: Irina Wilhauk/Shutterstock.com

    Background

    People with ASD can have difficulties interacting and communicating with others and often find repetitive or restricted patterns of activities, interests, and behaviors comforting. These challenges affect their daily life and make social interactions stressful.

    Socially assistive robots, programmed to facilitate social engagement, can help people with ASD grow their social and cognitive abilities, allowing them to initiate social contact more easily.

    Results from some studies indicate that people with ASD may prefer interacting with robots over humans.

    This review summarized the benefits individuals with ASD get from interacting with robots, whether they prefer them over humans, the possible reasons for this, and the challenges faced while interacting with robots.

    Improvements in social interaction, communication, and specific behaviors

    Studies have shown that children with ASD show more social behaviors when interacting with robots than humans, including joint attention, eye contact, activity engagement, collaborative play skills, verbal communication, imitation, and touch.

    After interventions with robotic tools, children displayed improved social interaction skills with human partners as well as robots.

    Other interventions aimed either to facilitate the development of appropriate and relevant behaviors or to reduce anxiety and maladaptive behaviors.

    Appropriate behaviors included learning how to take turns, making non-verbal gestures, recognizing emotions, and regulating physical contact and touch.

    Children with ASD appeared more interested in the robot but were as likely to learn how to take turns or make gestures from a robot as from a human.

    Autistic children who received a robot-based intervention were better at recognizing happiness, sadness, fear, disgust, and anger, as well as more complex emotions like shame.

    Robot interventions also reduced anxiety and repetitive behaviors, but studies that compared their efficacy to that of humans found conflicting results.

    Preference for interacting with robots over humans

    Studies suggest that when people with ASD encounter a robot, they are more likely to be engaged in the task than they would when faced with a human.

    Unlike people with typical development (TD), people with ASD do not show a preference for humans over artificial objects. Also, distinct from people with TD, autistic people appear more likely to follow robot movements than human ones.

    One study found that autistic adolescents were more likely to confide in a robot about embarrassing experiences than in a human.

    Autistic adults showed similar responses to human and synthetic voices compared to neurotypical people with a marked preference for human voices.

    A study on people with ASD between the ages of 17 and 25 found that they showed a higher willingness to receive interview training from a robot compared to a human. Their willingness was also negatively correlated with how human they described the robot as.

    Robots could be better motivators than people – or easier to predict and understand

    Individuals with ASD may be less likely to orient themselves toward social information since they do not pay as much attention to social information, engage as much with social learning, and do not look at people as much.

    People with ASD are less motivated by social rewards and are less likely to use greeting and farewell gestures than neurotypical people.

    Thus, one hypothesis for why autistic people show more improvements when interacting with robots is that robots are more motivating than humans.

    However, another suggests that since robots can be considered simplified social agents, they are less complex to engage with than humans and are, therefore, less intimidating.

    To people with ASD, they may represent an intermediate stage of difficulty, which prepares them to interact more easily with other humans. Their behavior may also be easier to predict.

    Conclusions

    Overall, there is promising evidence of the benefits of robotic interventions for people with ASD.

    The authors noted high inter-individual variability in how effective the use of robots may be, including between people of different genders, ages, and cultures or with different levels of cognitive functioning, language skills, and sensory preferences. This points to the lack of generalizability of results and the need for further study.

    The studies included in the review used a variety of interventions and robot tools; many did not include a human control group to the group that received a robotic intervention.

    Future studies should also explore how long the benefits of robots last after the intervention is concluded, though there are indications that the effect may persist in the long term. Using standardized measurement tools and sample selection may allow for stronger conclusions.

    [ad_2]

    Source link

  • Nutritional epigenetics education reduces ultra-processed food intake in parents of children with autism and ADHD

    Nutritional epigenetics education reduces ultra-processed food intake in parents of children with autism and ADHD

    [ad_1]

    In a recent publication released by PubMed, American scientists led by Dr. Dufault at the Food Ingredient and Health Research Institute, reported the results of a clinical trial in which parents who received nutritional epigenetics education significantly reduced their consumption of ultra-processed foods while increasing their intake of whole and/or organic foods. The education intervention used curriculum focused on the constructs of the nutritional epigenetics model that explains how autism and attention deficit/hyperactivity disorder (ADHD) may develop from the excess consumption of ultra-processed foods.

    Consumption of ultra-processed foods leads to heavy metal exposures and dietary deficits that create mineral imbalances such as zinc and calcium losses. Inadequate zinc stores can disrupt the function of the metal transporter metallothionein (MT) gene preventing the elimination of heavy metals found in ultra-processed foods. The bioaccumulation of mercury and/or lead is common in children with autism and ADHD who are often zinc deficient. Mercury, lead, and other heavy metals are known to suppress the paraoxonase (PON1) gene. Paraoxonase is required by the body to detoxify the neurotoxic organophosphate pesticide residues found routinely in the food supply by the United States Department of Agriculture. Children with autism and ADHD are more susceptible to the harmful effects of organophosphate pesticide exposures.

    Parents who received nutritional epigenetics education learned how to reduce their children’s dietary exposures to heavy metal and organophosphate pesticide residues. The parents learned how to read food ingredient labels and changed their diet as they avoided buying foods with allowable heavy metal and pesticide residues. In learning how specific food ingredients contribute to heavy metal exposures, impact nutrient status and/or gene behavior, parents gained the knowledge they needed to feed themselves and their children a healthier diet. By the end of the education intervention, parents had changed their minds about their ability to control their child’s behavior through diet.

    Children behave better when they feel better. Because the severity of symptoms in autism and ADHD correlate directly to the heavy metal levels in blood, children with less heavy metal exposure show improvements in behavior and cognition. In addition, because heavy metals, in single or multi-metallic combination, create conditions for gut dysbiosis, improvements in diet can reduce inflammation and improve gut health. Reducing ultra-processed food consumption can alleviate symptoms associated with gut dysbiosis which is often a co-morbid condition found in children with autism and ADHD.

    Autism and ADHD are preventable, but the prevalence of these neurodevelopmental disorders will continue to increase in the United States until changes are made to reduce the allowable heavy metal residues in the ultra-processed food supply. The US Congress released two reports in 2021 on the problem of heavy metals in baby foods. The first report issued on February 4, 2021, revealed baby foods are tainted with dangerous levels of arsenic, lead, cadmium, and mercury. The second report, issued on September 29, 2021, confirmed new disclosures from manufacturers show dangerous levels of heavy metals in even more baby foods.

    Source:

    Food Ingredient and Health Research Institute

    Journal reference:

    Dufault, R. J., et al. (2024) Nutritional epigenetics education improves diet and attitude of parents of children with autism or attention deficit/hyperactivity disorder. World Journal of Psychiatry. doi.org/10.5498/wjp.v14.i1.159.

    [ad_2]

    Source link

  • New insight into how experiences and features of neurodiversity vary among UK adults

    New insight into how experiences and features of neurodiversity vary among UK adults

    [ad_1]

    A new study has provided insight into how experiences and features of neurodiversity vary amongst adults in the UK.

    There is variation in people’s attributes and experiences across all populations. Neurodivergent people, such as people with a diagnosis of ADHD, dyslexia, dyspraxia, or autism, may experience the world in distinctive ways. But, we are only beginning to appreciate how traits and experiences associated with neurodivergence differ across the whole population.

    Now, new research from the University of Birmingham has provided a more detailed picture of what neurodiversity looks like amongst adults in the UK.

    The research is published in JCPP Advances.

    Ian Apperly, Professor of Cognition and Development and Director of the Centre for Developmental Science at the University of Birmingham, who led the study said: “People’s experiences of neurodevelopmental conditions are highly variable, and it is common for people to have more than one condition. Previous research has found, for example, that the prevalence of ADHD among autistic people is around 40%.

    “We also know that people show traits associated with neurodiversity to varying extents across the entire population; it’s not just people with a diagnosed neurodevelopmental condition whose experience is influenced by these traits. What we don’t have, is a detailed understanding of what this looks like. This raises important questions that can inform our understanding of the complexity of neurodiversity across the general population.”

    Professor Apperly and his team asked 1000 people representative of the UK population aged 18-70 to report on their experiences of characteristics commonly associated with autism, ADHD, dyslexia, and other conditions. For example:

    • High scores for characteristics associated with autism were linked with experiences of challenges with social and imaginative skills, higher preference for routines, and attention to details, numbers, and patterns.

    • High scores for characteristics associated with ADHD were linked with tendencies for inattentiveness, hyperactivity and impulsiveness.

    • High scores in cortical hyperexcitability were connected with visual sensitivity, and unusual visual experiences.

    • High scores for characteristics associated with dyslexia were linked with lower fluency with reading and word-finding.

    Although characteristics associated with different neurodevelopmental conditions are often considered separately, the research found that when examined at the same time there were high levels of overlap, so people reporting high characteristics for one condition, also tended to report experiences associated with other conditions.

    However, the research also found evidence of distinctive characteristics associated with specific conditions, above and beyond this general shared neurodiversity.

    We found that there is considerable overlap in the broader characteristics associated with different neurodevelopmental conditions so that people with higher levels of characteristics associated with one condition (e.g., ADHD) are also more likely to have higher levels of characteristics associated with other neurodevelopmental conditions (e.g., autism, dyslexia, dyspraxia, tic disorders). But we also discovered that the same traits can be explained by different underlying causes. For example, some people reported high levels of several traits associated with autism, even though they did not report high levels of neurodivergent characteristics overall, while other people reported high levels of autistic traits alongside high levels of traits associated with other conditions. And some combinations were particularly unusual. For example, people showing high levels of traits associated with dyslexia and dyspraxia tended not to show high interest in numbers and patterns.”


    Ian Apperly, Professor of Cognition and Development and Director of the Centre for Developmental Science at the University of Birmingham

    This study is the largest examination to date to explore the diversity in how characteristics relating to neurodevelopmental conditions are expressed amongst adults in the UK. The researchers say that it has provided critical benchmark data and a framework approach for examining neurodiversity in the whole population, including people with one or more diagnoses.

    Professor Apperly concluded: “Our findings help make sense of the complexity of neurodiversity. They help us understand characteristics and experiences that might be common across neurodevelopmental conditions, as well as those that are distinctive. The study also helps us understand how two people with the same diagnosis might nonetheless have rather different characteristics and experiences. By providing a picture of how neurodiversity appears across the whole population, this research can go on to inform improvements for future studies in this area. The more we know about other people’s experiences, the better we can understand each other.”

    Source:

    Journal reference:

    Apperly, I. A., et al. (2024). A transdiagnostic approach to neurodiversity in a representative population sample: The N+ 4 model. JCPP Advances. doi.org/10.1002/jcv2.12219.

    [ad_2]

    Source link

  • Genetic link found to emotional sensitivity in stressful situations

    Genetic link found to emotional sensitivity in stressful situations

    [ad_1]

    In a recent study published in Scientific Reports, researchers assess how genetic variation in a cluster of differentiation 38 (CD38) is associated with increased personal distress in an emotionally evocative situation. 

    Study: CD38 genetic variation is associated with increased personal distress to an emotional stimulus. Image Credit: Dragana Gordic / Shutterstock.com Study: CD38 genetic variation is associated with increased personal distress to an emotional stimulus. Image Credit: Dragana Gordic / Shutterstock.com

    CD38 and oxytocin

    Oxytocin is a peptide neurohormone that is actively involved in social behavior, including parent-infant bonding, particularly in the immediate period following childbirth, romantic relationships, and group dynamics. Oxytocin-related genetic variants have been associated with various effects on empathy, brain activation during emotion recognition tasks, responses to trauma, and the risk of autism.

    Recently, researchers have identified that A allele carriers of the CD38 single nucleotide polymorphism (SNP) rs3796863 had higher plasma oxytocin levels, a more sensitive approach to parenting, and stronger empathic responses. However, other studies have reported that students with the AA genotype of the CD38 SNP reported higher levels of suicide ideation, depressive symptoms, and greater alienation from parents and peers.

    These conflicting findings have led some researchers to theorize that A carriers may be more socially sensitive, which, as a result, could lead to a stronger negative emotional response during stressful situations. Despite this concept, no study to date has assessed the impact of the CD38 genotype on negative reactivity to an emotionally stressful situation.

    About the study

    For the present study, researchers recruited Canadian university students 18 years of age and older with no health issues expected to influence hormone levels. All study participants were shown a three-minute video depicting a father narrating the story of his child’s terminal cancer.

    After the video, study participants completed a questionnaire seeking to assess their emotional response to 12 emotions, six of which involved feelings of empathic concern, whereas the remaining six included feelings of personal distress. These responses were rated on a scale from one to five, with higher scores indicating higher endorsement of the emotional response. 

    Two Interpersonal Reactivity Index (IRI) subscales, including the personal distress and empathic concern subscales, were used to explore whether the CD38 genotype related to dispositional measures of emotional responses. Participants completed the IRI approximately 10 minutes after watching the emotional video, during which they rated their responses on a five-point Likert scale, with a higher score indicating increased empathy.

    Study findings

    A total of 171 students participated in the current study, 24, 77, and 70 of whom had the AA, AC, and CC genotypes of the CD38 SNP, respectively. 

    The average distress-related response ratings were higher for females than males and AA/AC than CC genotypes, thus suggesting that sex and CD38 genotype affected these responses but not their interaction. Females also scored higher than males on empathy-related responses; however, these scores were not significantly different among the different genotypes.

    On both IRI subscales, sex had a significant effect, with females scoring higher than males. However, the IRI subscale results were not significantly different between the CD38 genotypes.

    When seeing someone in distress, people with the A allele reported insignificant levels of empathy, a well-recognized response of care, but markedly higher levels of personal distress, a self-focused emotional reaction. 

    An empathy-inducing situation may elicit these two responses simultaneously; however, they can have different consequences. For example, while empathy promotes helping behavior to relieve the distress of the individual in need, a person in distress may have the urge to alleviate their own distress rather than offer help to the other person in need of help.

    Conclusions

    The current study provides preliminary evidence that genetic variation in CD38 influences social-emotional sensitivity. To this end, A allele carriers were more vulnerable to distress-related emotions in response to a negative social stressor. 

    The study findings may reconcile paradoxical findings that CD38 A allele carriers are more empathetic despite exhibiting worse interpersonal outcomes. Despite having greater empathy, their high levels of personal distress may prevent appropriate social support from being provided when involved in social conflict. 

    This data on oxytocin-related genetic variants could be used to predict individuals for whom the buffer against stress and anxiety in response to challenging interpersonal situations is weaker. Given their inability to regulate their negative emotions, these individuals should receive adequate and timely support.

    Future studies, especially in interpersonal contexts, need to use more natural empathy paradigms to assess the role of CD38 in emotional regulation.

    Journal reference:

    • Procyshyn, T. L., Leclerc Bédard, L., Crespi, B. J., & Bartz, J. A. (2024). CD38 genetic variation is associated with increased personal distress to an emotional stimulus. Scientific Reports 14(1); 1-7. doi:10.1038/s41598-024-53081-5

    [ad_2]

    Source link

  • Scientists uncover a way to “hack” neurons’ internal clocks to speed up brain cell development

    Scientists uncover a way to “hack” neurons’ internal clocks to speed up brain cell development

    [ad_1]

    The neurons that make up our brains and nervous systems mature slowly over many months. And while this may be beneficial from an evolutionary standpoint, the slow pace makes growing cells to study neurodegenerative and neurodevelopmental diseases -; like Parkinson’s disease, Alzheimer’s disease, and autism -; in the laboratory quite challenging.

    Currently, nerve cells derived from human pluripotent stem cells take months to reach an adultlike state in the lab -; a timeline that mirrors the slow pace of human brain development. (“Pluripotent stem cells” have the potential to develop into many other kinds of cells.)

    New research led by Memorial Sloan Kettering Cancer Center (MSK), however, has uncovered a way to “hack” the cells’ internal clocks to speed up the process. And the work is shedding new light on how cells’ developmental timetables are regulated.

    “This slow pace of nerve cell development has been linked to humans’ unique and complex cognitive abilities,” says Lorenz Studer, MD, Director of MSK’s Center for Stem Cell Biology and the senior author of two recent studies published in Nature and Nature Biotechnology. “Previous research has suggested the presence of a ‘clock’ within cells that sets the pace of our neurons’ development, but its biological nature had largely remained unknown -; until now.”

    New insights into nerve cell development

    Researchers, led by study first author Gabriele Ciceri, PhD, identified an epigenetic “barrier” in the stem cells that give rise to neural cells. (“Epigenetic changes” are ones that don’t alter the DNA code.) This barrier acts as a brake on the development process and determines the rate at which the cells mature. By inhibiting the barrier, the scientists were able to speed up the neurons’ development, they reported January 31 in Nature.

    While studying brain development in mice, I was struck by how neurons progress through a series of steps in a very precise schedule. But this schedule creates a big practical challenge when working with human neurons -; what takes hours and days in the mouse requires weeks and months in human cells.”


    Dr. Gabriele Ciceri, a senior research scientist in the Studer Lab at MSK’s Sloan Kettering Institute

    Furthermore, the team showed that this rate-setting epigenetic barrier is built into neural stem cells well before they differentiate into different types of neurons. They also found higher levels of the barrier in human neurons compared with mouse neurons, which may help explain differences in the pace of cell maturation in different species.

    Uncovering foundational biology

    That such discoveries were made at a cancer center isn’t as surprising as it might seem at first blush. The Studer Lab has long focused on harnessing advances in stem cell biology to develop new therapies for degenerative diseases and cancer -; both of which are strongly associated with aging.

    Moreover, MSK has long been a leader in “basic science” research -; that is, science that seeks to build fundamental understanding of human biology.

    About half of the National Institutes of Health (NIH) budget goes to funding basic science research. And the vast majority of drugs approved by the Food and Drug Administration in recent years involved publicly funded basic research, according to the NIH.

    “All of the major advances in cancer treatment in recent years -; immune checkpoint inhibitor therapy, CAR T cell therapy, cancer vaccines -; they’re all rooted in basic research,” says Joan Massagué, PhD, Director of the Sloan Kettering Institute and MSK’s Chief Scientific Officer. “Sometimes it can take years for the medical relevance of a particular discovery to become clear.”

    ‘A valuable research tool’

    A second study, led by Studer Lab graduate students Emiliano Hergenreder and Andrew Minotti and published January 2 in Nature Biotechnology, identified a combination of four chemicals that together can promote neuronal maturation. Dubbed GENtoniK, the chemical cocktail both represses epigenetic factors that inhibit cell maturation and stimulates factors that promote it.

    Along with helping to bring neurons to an adultlike state faster in the lab, the approach holds promise for other cell types, the researchers note.

    Not only was GENtoniK shown to speed the maturation of cortical neurons (involved in cognitive functions) and spinal motor neurons (involved in movement), but the chemicals were also able to accelerate the development of several other types of cells derived from stem cells, including melanocytes (pigment cells) and pancreatic beta cells (endocrine cells).

    “The generation of human neurons in a dish from stem cells provides a unique inroad into the study of brain health and disease,” the journal editors note in a research briefing that accompanied the study. “A major obstacle in the field arises from the fact that human neurons require many months to mature during development, making it difficult to recapitulate the process in vitro. The authors provide a valuable research tool by developing a simple drug cocktail that speeds up the maturation timeframe.”

    The findings could be particularly helpful in modeling disorders like autism that involve problems with synaptic connectivity, Dr. Studer says.

    Still, he notes, additional research is needed to develop models of neurodegenerative disorders that don’t occur until very late in life, such as Parkinson’s disease, which has long been a focus of Studer’s research.

    “Typically, a person is 60 to 70 years old when the disease begins. No baby gets Parkinson’s,” he says. “So, for those diseases, we need to be able to put the cells not just into an adult state but into an aged-like state. That’s something we’re continuing to work on.”

    Source:

    Memorial Sloan Kettering Cancer Center

    Journal references:

    [ad_2]

    Source link