«Given the small subset of
autism genes we studied, I had no expectation that we would see the degree of spatiotemporal convergence that we saw,» said State, an international authority on the genetics of neurodevelopmental disorders.
Not exact matches
Now, a new
study probing so - called noncoding DNA has found that alterations in regions that regulate
gene activity may also contribute to
autism.
The total «knockout» of the
gene makes the model more effective for
studying SHANK3 - related
autism and Phelan - McDermid syndrome in humans, many of whom are missing the
gene completely, said senior author Yong - hui Jiang, M.D., Ph.D., an associate professor of pediatrics and neurobiology
Jiang said
autism researchers worldwide could use the mouse model to
study ways to compensate for the
gene and improve symptoms in people with
autism spectrum disorders and Phelan - McDermid Syndrome, a more profound developmental condition caused by mutations to SHANK3 and other
genes in chromosome 22.
Although unique genetic variations in children with
autism are nearly as rare as they are in the general population, comprehensive
studies are starting to find patterns in disrupted
genes and pathways
A major
study conducted on twins shows that environmental factors may be at least as important as
genes in causing
autism.
Previous
studies have shown that inherited mutations in a
gene (called TMLHE) that is required for carnitine biosynthesis are strongly associated with risk for development of
autism - spectrum disorders, but the basis for that association has been unclear — until now.
A new multi-institutional
study by Japanese researchers shows a potential rare
gene mutation that could act as a predictor for two neurodevelopmental disorders, schizophrenia and
autism.
The results of this
study not only advance science's understanding of the links between
genes, the brain and behavior, but may lead to new insight into such disorders as
autism, Down syndrome and schizophrenia.
The largest of its kind, the
study examined genetic data in 100,000 individuals including 40,000 people with a diagnosis of schizophrenia and also found that some of the
genes identified as increasing risk for schizophrenia have previously been associated with other neurodevelopmental disorders, including intellectual disability and
autism spectrum disorders.
Even though these
studies seem large, they're still too small to nail down the major
genes behind
autism, he says.
In a
study published earlier this year, Jiang and other collaborators at Duke described a mouse model of
autism in which they deleted a prominent
autism gene called SHANK3, which is mutated in 1 percent of people with the disorder.
Genetic
studies have linked a number of risk
genes to
autism spectrum disorder (ASD).
Large scientific
studies in people and animals may help us understand the role of particular
genes and neurochemicals in this process — and whether this process differs in the various forms of
autism.
He will promote high - throughput technologies in areas that are «poised for this kind of approach,» such as
gene transcription and
autism studies.
«In this
study, we wanted to determine where in the brain this social behavior deficit arises and where and how increases of the UBE3A
gene repress it,» said Anderson, who is also an Associate Professor in the Program in Neuroscience at Harvard Medical School and Director of
Autism BrainNET Boston Node.
The
study, which has identified more than 200 rare variants inherited by children, determines that
genes YWHAZ and DRP2, among others, are new candidates in the research on
autism genetic basis.
The new research focused on just nine
genes, those most strongly associated with
autism in recent sequencing
studies, and investigated their effects using precise maps of
gene expression during human brain development.
And large, genome - wide
studies searching for genetic underpinnings for more common diseases, such as lung cancer or
autism, have pointed to the nether regions of the genome between the protein - producing
genes — areas that were often thought to contain «junk» DNA that was not part of the pantheon of known
genes.
Environment Gets More Blame for
Autism: A new study suggests that environment accounts for more than half of autism risk, while genes are responsible for about 40 pe
Autism: A new
study suggests that environment accounts for more than half of
autism risk, while genes are responsible for about 40 pe
autism risk, while
genes are responsible for about 40 percent.
«Twin
studies are one of the most important pieces of evidence for
genes being involved [in
autism],» says Abha Gupta, a pediatrician who also researches the genetics and neurobiology of ASD at Yale School of Medicine.
Researchers will also need to start drilling deeper to
study individual copy number variations and disrupted
genes to understand how they might lead to
autism, she notes.
In a 2015
study of 46 people, Bearden found that people with 22q11.2 deletion syndrome who have
autism show different patterns of
gene expression than do those with the syndrome who have schizophrenia3.
In the new
study, Deisseroth's team used mice that lack both copies of CNTNAP2, a
gene linked to
autism.
An independent
study published last month looked at several
autism genes and made a strong case for three of the new
genes2.
Baudouin and colleagues
studied groups of mice that had been genetically modified to lack neuroligin - 3, a
gene that is mutated in some people with
autism.
The new
study, published this month by Molecular
Autism in a special issue on sex differences in autism, further shows a stronger correlation between the expression level of RORA and that of genes regulated by RORA in
Autism in a special issue on sex differences in
autism, further shows a stronger correlation between the expression level of RORA and that of genes regulated by RORA in
autism, further shows a stronger correlation between the expression level of RORA and that of
genes regulated by RORA in males.
In her most recent
study, published in the American Journal of Medical Genetics in 2006, James found that common
gene variants that support the glutathione pathway may be associated with
autism risk.
In previous
studies, Hu and her group reported that RORA is a novel candidate
gene for
autism and is regulated in opposite directions by male and female hormones.
A new
study suggests that environment accounts for more than half of
autism risk, while
genes are responsible for about 40 percent.
In the new
study, the researchers discovered that during the second trimester of human brain development, oRG cells express
genes related to a fundamental signaling pathway called mTOR, defects in which have previously been implicated in
autism and several other psychiatric disorders.
Future
studies should help to reveal more about the role of the many
genes and mutations that contribute to
autism and other disorders, Feng says.
On January 9, a team, led by researchers at Massachusetts General Hospital (MGH) and Children's Hospital Boston, announced that it had found copy number variations — deletions of duplications of segments of genetic code that alter the number of copies of a
gene a person carries — in 12 of 1,400
autism sufferers it was
studying.
Both of the new
studies found that copy number events involving either duplication or deletion of the 25 to 30 chromosome - 16
genes — several of which are known to play a role in the developing brain — appear to cause
autism.
The newest
study from the
Autism Speaks MSSNG project — the world's largest autism genome sequencing program — identified an additional 18 gene variations that appear to increase the risk of a
Autism Speaks MSSNG project — the world's largest
autism genome sequencing program — identified an additional 18 gene variations that appear to increase the risk of a
autism genome sequencing program — identified an additional 18
gene variations that appear to increase the risk of
autismautism.
«World's largest
autism genome database shines new light on many «
autisms»: Latest
study identifies 18 new
autism - linked
genes, deepening understanding of
autism's broad spectrum.»
«Genetic
studies are showing that there will be about 1,000
genes linked to
autism.
«Genetic analysis supports prediction that spontaneous rare mutations cause half of
autism: Quantitative
study identifies 239
genes whose «vulnerability» to devastating de novo mutation makes them priority research targets.»
The
study, whose first author is the quantitative biologist Ivan Iossifov, a CSHL assistant professor and on faculty at the New York Genome Center, finds that «
autism genes» - i.e., those that, when mutated, may contribute to an ASD diagnosis - tend to have fewer mutations than most
genes in the human
gene pool.
Increased expression of a
gene linked to
autism spectrum disorders (ASDs) leads to a remodeling of dendrites during brain development, according to a new
study conducted in cultured neurons and an ASD mouse model published in JNeurosci.
The
study for the first time estimates the minimum number of locations in the human genome — 250 to 300 — where
gene copy number variation (CNV) can give rise to
autism spectrum disorder (ASD).
Companion
studies also shed light on the question of why boys are more likely to develop
autism than girls, and begin to outline a network of
genes whose activity is altered in the brains of individuals with
autism.
The finding wasn't surprising, Fallin explains — numerous
studies have identified abnormal
gene expression of immune
genes in
autism samples and environmental experiences such as prenatal infection or prenatal exposure to pollutants that can ramp up immune responses are risk factors for ASD.
«Instead of looking solely at the
genes directly implicated in
autism through their genetic code changes, we really should be also
studying the functions of the other
genes implicated by these changes in genetic code through epigenetic connections.»
They note that this network is strongly related to
genes previously implicated in
studies of
autism and intellectual disability.
Dr. Hornig is also a lead investigator for the
Autism Birth Cohort, a prospective birth cohort study in Norway that is identifying how genes and maturational factors interact with environmental agents to lead to a
Autism Birth Cohort, a prospective birth cohort
study in Norway that is identifying how
genes and maturational factors interact with environmental agents to lead to
autismautism.
Now researchers at UC San Francisco have taken the first step toward a comprehensive atlas of
gene expression in cells across the developing human brain, making available new insights into how specific cells and
gene networks contribute to building this most complex of organs, and serving as a resource for researchers around the world to
study the interplay between these genetic programs and neurodevelopmental disorders such as
autism, intellectual disability and schizophrenia.
According to the
study, the researchers» genetic analysis supports previous findings that people carrying
autism genes tend to be intelligent, as well as findings about common traits between
autism and high IQs — bigger brains that grow faster, better sensory and visual - spatial capabilities, and improved decision - making, to name a few.
Working in collaboration with
autism genetics experts Matthew State, MD, PhD, chair of the UCSF Department of Psychiatry, and Jeremy Willsey, PhD, an assistant professor at the UCSF Institute for Neurodegenerative Diseases, Krogan's laboratory is
studying 65
genes that have been implicated in
autism.
The
study published last month found that male mice who don't have this
autism - associated
gene showed abnormal learning behavior — a symptom of
autism.