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2010

Jumping genes implicated in Rett syndrome: The neurons of people with Rett syndrome contain an overabundance of retrotransposons — DNA sequences that copy and insert themselves into new spots throughout the genome — during early development, according to a study published 18 November in Nature.
Scientists capture microglia's role in brain connectivity: Scientists are changing their minds about the role of microglia, the brain's strongest and most agile soldiers against damage and infection. In healthy brains, microglia help build and eliminate synapses, the junctions between neurons, according to a study published 2 November in PLoS Biology.
Scientists create mouse models of chromosome 16 defects: Two independent groups have created mice that have deletions or duplications in a large section of chromosome 16. Each team has produced an animal with a different set of features, some of which — such as large head size and repetitive behaviors — are reminiscent of people with autism.
Calming neurons may ease apnea in Rett syndrome: A controversial new approach that quiets the activity of certain neurons in the brain alleviates breathing difficulties in a mouse model of Rett syndrome, according to a study published 4 October in the Proceedings of the National Academy of Sciences.
New technology advances studies of gait in autism: A three-dimensional motion-capture system developed for film animation has found subtle differences in hip and ankle movement in children with autism compared with typically developing controls.
Robots spark social play in children with autism: Children with autism play eagerly with robots — and their social interactions with people improve as a result.
Mother's immune response alters brain structure: Chemicals produced by their mother's immune system in utero alter the size of several key brain regions in people with schizophrenia, enlarging chambers that store cerebrospinal fluids, and shrinking parts of the cortex involved in processing emotion and memory.
Researchers probe linguistic patterns of Williams syndrome: Children with Williams syndrome are chatty, have rich vocabularies and love to tell stories. Yet they have trouble learning certain complex rules of grammar, according to a study published in the Journal of Speech, Language and Hearing Research.
Cancer protein directs synapse formation, study shows: A tumor suppressor best known for its role in colorectal cancer plays a critical role in forming connections between neurons, according to a study in the August 18 issue of the Journal of Neuroscience.
Linkage study reveals parent-of-origin effects in autism: The first genome-wide linkage analysis of more than 1,200 families has identified regions implicated in autism as originating from either the paternal or maternal copies of chromosomes.
Mutant mouse pins PSD-95 in Williams syndrome: Mice missing a large protein at the junction between neurons show motor impairments, anxiety and increased social behaviors, according to a study in the American Journal of Psychiatry. The protein, postsynaptic density-95 or PSD-95, is part of a key molecular bridge connecting other proteins linked to autism.
For children with autism, iPads an attractive option: Researchers are exploring the iPad and other touch-screen devices for their potential to help people with autism communicate more effectively. Until studies prove their efficacy, however, some experts hesitate to recommend their use.
Autism drug's usefulness depends on genetic profile: An antipsychotic drug often prescribed to treat irritability in children with autism may be more helpful — and cause fewer side effects — depending on an individual’s genetic make-up.
Researchers debut new mouse model for Rett syndrome: A new mouse model for Rett syndrome shows that disrupting a single brain messenger can produce nearly all of the characteristic features of the syndrome, researchers report today in Nature.
Stem cell assay reveals early development of Rett neurons: Researchers have developed the first stem cell system that makes it possible to study the early development of neurons from people with Rett syndrome, a rare disorder on the autism spectrum.
'Daydreaming' circuit implicated in autism, attention deficit: Areas of the brain that are active when people are daydreaming or sleeping, and quiet when they are engaged in a task, are imperfectly synchronized in people with autism and attention deficit hyperactivity disorder, researchers say.
Risk gene for autism rewires the brain: A variant of the autism risk gene CNTNAP2 may alter the brain to emphasize connections between nearby regions and diminish those between more distant ones, according to a study published 3 November in Science Translational Medicine.
Defects in mitochondria linked to autism: Cells drawn from a small sample of children with autism show defects in the functioning of their mitochondria — structures that produce energy to power cellular functions — according to a study published this week in the Journal of the American Medical Association.
Flow of water in the brain fingers autism: An analysis of brain scans correctly distinguishes between people with autism and controls more than 90 percent of the time, according to a study published today in Autism Research.
Utah pedigree study pegs chromosome 15 for autism risk: Chromosome 15 may harbor one or more risk genes for autism, according to a new study of multigenerational inheritance in Utah. Researchers have gathered data on family pedigrees stretching back as far as nine generations, with up to five family members affected by the disorder.
Large study pinpoints new genetic risk region for autism: Deletion of the chromosomal region 17q12 dramatically increases the risk for autism and schizophrenia, according to a large study published last week in the American Journal of Human Genetics. Individuals missing this sizeable region are about 14 times more likely to develop one of those disorders, the study reports.
Multi-gene deletion creates model for Angelman syndrome: A new mouse model of Angelman syndrome that knocks out a large stretch of a key chromosome is clarifying some of the molecular mechanisms underlying the more severe forms of the disorder.
Parents share key traits of children with autism: Parents and siblings of people with autism have abnormal eye movements and score higher on tests evaluating traits associated with the disorder.
Infant gaze signals autism risk, study suggests: At 6 months of age, siblings of children with autism are less likely to gaze spontaneously at their caregivers while focused on learning a new task, though they learn the task just as quickly as do low-risk infants, according to a study in the Journal of Child Psychology and Psychiatry.
New tests for fragile X promise routine screening: A new wave of genetic tests for fragile X syndrome, the leading cause of inherited mental retardation and the most common genetic cause of autism, may make it possible to routinely screen pregnant women and newborns for the syndrome.
Social factors may drive the spike in autism cases: Changes in diagnostic practices, more active neighborhood networks, and an increase in the number of older parents may all contribute to the massive rates of autism in California, says a group of social scientists. But the numbers still don’t add up.
Studies explore amygdala problems in fragile X syndrome: The amygdala, a brain region that regulates fear and anxiety, shows abnormal neuronal signaling in a mouse model of fragile X syndrome, according to two studies published this summer. These are the first to explore cellular defects in the region in fragile X.
Researchers debut unique identifiers for study participants: Researchers have devised a system to assign a unique identifier to each participant in an autism study. This Global Unique Identifier, or GUID, allows investigators to see which other studies participants have enrolled in, while maintaining participants’ privacy.
Fragile X protein tied to snags in stem cell development: The protein missing in fragile X syndrome is necessary for the proper development of neural stem cells — self-renewing cells that can differentiate into more specialized types, including neurons — according to a paper published in the August issue of Human Molecular Genetics.
X-linked gene increases autism risk in boys: A newly characterized gene on the X chromosome may be disrupted in up to one percent of people with autism, researchers reported Wednesday in Science Translational Medicine.
Time perception problems may explain autism symptoms: Individuals with autism have trouble perceiving the passage of time, and pairing sights and sounds that happen simultaneously, according to two new studies.
Jokes crack open brain connectivity in autism: Telling jokes allows children to connect with others, refine their language skills and develop keen imaginations. Because these are precisely the skills lacking in people with autism, studying humor in children with the disorder may give insights into their abnormal brain circuitry and even lead to therapies, according to a review published in the Journal of Child Neurology.
Estrogen reverses autism-like features in mice: Two new studies provide clues that may explain sex differences in autism prevalence. Italian researchers have found that injecting estrogen into the brains of young male mice reverses some of the structural and behavioral changes associated with low levels of reelin — a brain protein that has been previously implicated in autism — and the effects endure into adulthood.
Studies tie fragile X syndrome to famous cancer pathway: A drug that interferes with a biochemical pathway important in cancer can reverse some brain defects in mouse models of fragile X syndrome, according to a study published 11 August in the Journal of Neuroscience.
Fragile X protein linked to potassium channels: Mouse models of fragile X syndrome show defects in two kinds of potassium channels — ubiquitous pores that control the flow of electrical current across neurons — in a brain area that processes sound, according to two papers published this summer.
Norway baby study expected to yield insights into autism: The Autism Birth Cohort, based on data from 100,000 Norwegian children and their families, aims to uncover genetic and environmental factors contributing to the disorder.
Study finds weak genetic link between autism and intelligence: Autism and intellectual disability often occur together, but in most cases that overlap is not genetic, according to a study of twin pairs published in the American Journal of Medical Genetics. Unraveling this link might help researchers pinpoint brain circuits involved in both conditions, and better understand the diversity of symptoms in the autism spectrum, experts say.
Social interactions not rewarding for children with autism: Children with autism have abnormally low brain activity in the ‘reward center’ of the brain when given money or shown a happy face, according to a study in Autism Research. These are the first imaging data to support the notion that children with autism derive less pleasure from social interactions compared with their healthy peers.
Neurexin found to have diverse partners at synapse: Scientists have discovered that neurexins — proteins linked to autism — bind to a wide variety of molecules at the junction between neurons. In this complicated system, the breakdown of any one of the parts could lead to improper cell signaling, ultimately giving rise to disease.
Dramatic regression leads to severe autism, study finds: Toddlers who abruptly lose language, social or other developmental skills are more likely to have severe autism a few years later compared with children who have consistent delays from an early age. That's the conclusion of the largest study thus far of autism onset patterns, published in the Journal of Autism and Developmental Disorders.
Groups aim to recruit more racial minorities for genetic studies: Racial minorities are under-represented in genetic studies, in part because research guidelines do not account for differences in family structure, according to a report based on statistics from several autism gene banks. In response to the report, research teams at Stanford University and the University of California, Los Angeles, are revamping their recruitment practices.
Fragile X models give clues to stem cell programming: Not all stem cells are created equal, a string of new studies suggests: adult cells that are reprogrammed into stem cells carry chemical remnants of the tissue from which they originate, making them distinct from embryonic stem cells. These differences may have important implications for studying fragile X syndrome and other diseases that arise from epigenetic glitches.
Brain's adaptability begins at single synapse: Researchers have uncovered an important molecular piece of a learning mechanism that occurs at the junction between neurons. The findings, which may help understand how the brain is disrupted in disorders such as autism, appear in the 24 June issue of Neuron.
Diagnostic scans for autism not imminent, experts say: An imaging study widely interpreted as heralding a diagnostic brain scan for autism is more preliminary than popular media reports would indicate, according to experts familiar with the work.
Brain curvature distinguishes Asperger syndrome from autism: A region of the brain that controls language is more extensively curved in children with autism than in those with Asperger syndrome, according to a study published in the Journal of Child Neurology. The findings offer preliminary biological evidence that Asperger syndrome, a disorder on the autism spectrum, is distinct from high-functioning autism.
Scientists flash videos of brain development in fragile X: Scientists have for the first time captured a dynamic picture of brain defects in young mouse models of fragile X syndrome. The findings appeared in June in the Journal of Neuroscience.
New technique maps methylated DNA: A new technique can simultaneously sequence DNA and pinpoint some of the chemical modifications that turn genes on or off, according to a report published 9 May in Nature Methods. In particular, the technique reveals methyl groups bound to DNA bases.
Study implicates cell-adhesion proteins in autism: Variations in two genes needed to form connections between brain cells may be associated with autism spectrum disorder, according to a study published 25 March in Molecular Autism. Some variants in the genes seem to increase susceptibility to autism, whereas others protect children from developing the disorder.
Williams syndrome precludes racial bias, study finds: Children with Williams syndrome — a rare genetic disorder that leads to mental retardation and overt friendliness — hold stereotypes based on gender, but not race, according to a report published in Current Biology. Because those with Williams syndrome don't have social fear, the study suggests racial stereotypes are based partly on fear.
Microarray analysis deemed best genetic test for autism: Chromosomal microarray analysis, which screens the entire genome for tiny blips in the sequence, should be the first genetic test performed when diagnosing autism, says a consortium of clinical geneticists. The recommendation comes on the heels of a study that found the test is three times more effective at spotting autism variants than are standard clinical methods.
Researchers identify biological roles for fragile X protein: FMRP, the protein missing in fragile X syndrome, is needed for the birth of new neurons, for regulating the translation of RNA into protein, and for maintaining the structural integrity of spiny neuronal projections, according to several new studies.
New model mines simpler organisms for autism genes: A new model that compares how the same genes behave in different organisms could help researchers identify previously unknown candidates for diseases such as autism. The model, published in the Proceedings of the National Academy of Sciences, takes advantage of the genetic overlap between humans and simpler organisms to discover genes associated with complex diseases.
Rett gene function extends beyond neurons, study finds: Microglia, brain cells that provide immune protection to neurons, may influence the onset and course of Rett syndrome, according to a study published in the Journal of Neuroscience.
Autism marked by copy number changes in coding regions: People with autism harbor more copy number variants (CNVs) — deletions or duplications of large chunks of DNA — compared with controls, but only in the protein-coding regions of the genome, researchers reported Wednesday in Nature . The study also pinpointed more than 100 new risk genes for autism.
Faulty connectivity found in mouse model of schizophrenia: Mice engineered to carry a well-known risk factor for schizophrenia show disruptions in the connections between two brain regions that coordinate memory and learning. And these disruptions directly cause problems with working memory — the ability to actively hold information and to recall that information to make a decision, according to a study published in Nature.
Flu triggers schizophrenia-like features in monkeys: Babies born to rhesus monkeys infected with the flu virus during pregnancy have significantly smaller brains than normal, and other brain abnormalities seen in schizophrenia, researchers have found. The study, published last month in Biological Psychiatry, provides the first evidence in non-human primates linking flu infection to a higher risk of schizophrenia.
Pharma companies set their sights on autism: A decade of research on the biology of autism, combined with a steady rise in diagnoses, has finally piqued the pharmaceutical industry's interest in developing drugs for the disorder. Preliminary data from one small clinical trial already show positive results, and results from several others are expected early this summer.
Synaptic defects link autism, schizophrenia: Several independent groups have found previously unknown risk genes for autism, schizophrenia and mental retardation. The candidate genes have one thing in common: they encode proteins that are needed for the healthy function of synapses, the junctions between neurons.
Abnormal brain growth seen in children with fragile X: Children with fragile X syndrome show abnormal growth in several brain structures during the first few years of life, according to the first study to track how the disease unfolds in the brain during early development.
Chromosome 7 segment gives clues to complex social behavior: Individuals carrying an extra copy of the genetic region that's missing in Williams syndrome — which causes mental retardation and a hyper-friendly personality — have language impairments and other autism-like social difficulties, according to a wave of new research on this duplication syndrome.
Deep sequencing questions role of imprinted genes in autism: The mouse brain has more than 1,300 regions for which the copy from one parent is expressed more often than the one from the other parent, according to two studies published today in Science. These so-called imprinted genes have been proposed to cause some cases of autism, but the researchers say their findings do not support that theory.
Future of autism genetics is all in the family: Two independent teams have identified the genetic culprits of three rare, inherited diseases by sequencing the genomes of several members of the same family. As the cost of whole-genome sequencing plummets, this family-based approach will reveal candidate genes not just for rare diseases but for common, complex disorders such as autism, experts say.
Mouse models reveal workings of neuroligin-1: Researchers are tinkering with mouse models to investigate the function of a protein that helps wire neurons together and that has repeatedly been linked to autism. Three such reports of the protein, neuroligin-1, have appeared this year.
Rat study sniffs out vasopressin's role in social behavior: Neuroscientists have discovered a population of cells in the smell-perception area of the rat brain that express the hormone vasopressin. The study, published in Nature, begins to unpack the complicated molecular interactions of the hormone in the brain, which could lead to new autism treatments.
Imaging studies investigate language circuits in autism: Some brain areas involved in speech are larger and some smaller in children with autism compared with healthy controls, according to a series of imaging studies conducted by a Boston research group.
Imaging study refutes mirror neuron theory of autism: Mirror neurons, which fire when someone either performs an action or observes it, are not defective in people with autism, scientists report today in Neuron. The findings dispute the theory that flaws in the mirror neuron system give rise to the disorder.
Delay found in development of fragile X brains: Young mouse models of fragile X syndrome show a significant lag in the development of synapses, the connections between neurons, according to a study published in Neuron. The findings suggest that a similar mistiming may be responsible for the sensory problems — such as hypersensitivity to touch and sound — sometimes seen in people with fragile X syndrome.
Autism and fragile X feature immune signatures: Scientists have identified distinct blood signatures of cytokines — proteins that control communication between cells of the immune system — in individuals with fragile X syndrome and autism.
Autism symptoms emerge in infancy, sibling study finds: At 6 months of age, babies who will later develop autism begin to lose some of their social skills and continue to regress until age 3, according to a study published in the Journal of the American Academy of Child & Adolescent Psychiatry.
Rett gene found to control genome structure in neurons: The protein that is mutated in Rett syndrome controls the expression of other genes by changing the way DNA packs into a cell, rather than turning genes on or off, according to a study published in Molecular Cell.
Random genetic changes may explain variability in autism: Random changes in gene expression can cause genetically identical embryos to develop different traits, according to a study of worms published in Nature. The findings suggest that haphazard movements of molecules could partly explain why autism-associated mutations don't always cause the same symptoms.
Scientists finger neurexin 1 defects in autism: Several studies in the past year in people, mice and honeybees have tied autism to a protein that helps neurons communicate. Problems with the protein, neurexin 1, are associated with a wide range of autistic behaviors, such as impaired social interactions, anxiety and problems with learning and memory.
Autism not a fundamental problem of attention, study says: Toddlers with autism pay less attention to faces than do healthy controls, but both groups give equal attention to objects, according to a study published in the Archives of General Psychiatry. The findings challenge the idea that individuals with autism have a generalized problem with attention, suggesting instead that they struggle with attending specifically to social stimuli, researchers say.
Researchers probe genetic overlap between ADHD, autism: Attention deficit hyperactivity disorder (ADHD) and autism may have more in common than childhood onset and a few similar symptoms. New research suggests the conditions share genetic roots.
Scientists find molecular player in Angelman syndrome: Two independent teams have discovered key molecular steps in the way a single gene disrupts the connections between neurons in individuals with Angelman syndrome. Because the gene, UBE3A, has also been linked to autism, the findings could help scientists understand and treat a range of neurodevelopmental disorders.
Road maps of epigenome hold promise for autism: Scientists have unveiled the first two comprehensive maps of the human epigenome, the set of chemical changes that affect gene expression without altering the underlying DNA code. Pinpointing epigenetic differences between healthy and diseased cells could reveal the roots of many conditions, including autism.
Pregnancy drugs increase baby's autism risk, group claims: A class of medications widely used during pregnancy to treat asthma and prevent early labor increases the baby's risk of autism and other psychiatric disorders, according to a controversial review in the American Journal of Obstetrics and Gynecology.
Dog pedigrees unearth genes for psychiatric disease: Researchers are using dogs as models of psychiatric and behavioral conditions, including obsessive-compulsive disorder and autism.
People with autism stumble on self-other distinctions: When thinking about themselves, adults with autism have lower activity in two specific brain regions than do healthy controls, according to an imaging study published in the February issue of Brain.
Clinical, animal studies probe DISC1's role in autism: Several genetic and animal studies in the past year have found intriguing ties between autism and DISC1, one of the oldest candidate genes for psychiatric disorders.
Postmortem brains point to impaired inhibition in autism: Researchers have found a higher density of several types of interneurons — nerve cells that connect sensory and motor neurons in the brain— in postmortem brain tissue from individuals with autism, compared with healthy controls. The findings appear in the February issue of Acta Neurologica Scandinavica.
Studies challenge link between premature birth and autism: The proposed connection between premature birth and autism may be more complicated than it seems, according to a new report. Early birth may not cause classically defined autism but, rather, may predispose children to autism-like symptoms that are part of a larger syndrome, the researchers say.
Researchers seek patterns in the sounds of autism: Scientists have created machines to detect distinctive speech patterns in children with autism that go unnoticed by the naked ear.
Face recognition is distinct genetic skill, studies find: The ability to recognize faces and interpret facial expressions is programmed partly by genes and inherited separately from other traits, according to three independent studies published this year.
Early intervention yields big benefits for children with autism: An early intervention method called the Early Start Denver Model can help children with autism improve their language and behavioral skills, and raise their intelligence quotients, according to a study published in Pediatrics.
First drug for autism enters final stage of testing: A large clinical trial to test the first drug specifically designed to treat autism is under way at 12 sites across the United States.
Tuberous sclerosis linked to brain cell migration: The TSC2 gene, mutations in which cause tuberous sclerosis complex, is needed for budding nerve fibers to find their proper targets in the brain, according to a mouse study published in Nature Neuroscience.
Rare deletions on chromosome 16 tie autism to obesity: Individuals who carry a large and rare deletion on chromosome 16 that is associated with autism are likely to have developmental delays, be obese or both, according to two studies published last week in Nature.
Variants in trust hormone receptor up the risk for autism: Genetic variations that tweak the brain's release of oxytocin — a hormone involved in social bonding and establishing trust — may increase the risk of developing autism or autistic traits, according to three new studies published in the past few months.

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2010