The researchers used «bait» proteins from over two dozen known
autism genes, fishing in a pool of human DNA for other proteins that would interact with the baits.
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.
Cerebellin is a family of genes that physically interact with other
autism genes to form glutamatergic synapses, the junctions where neurons communicate with each other via the neurotransmitter glutamate.
Although other
autism genes almost certainly exist, Cantor says, the discovery is a «crucial first step» toward figuring out the cause of autism and developing treatments.
«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.
«We couldn't have done this even two years ago,» State said, «because we didn't have the key ingredients: a set of unbiased
autism genes that we have confidence in, and a map of the landscape of the developing human brain.
An independent study published last month looked at several
autism genes and made a strong case for three of the new genes2.
This finding suggests a domino effect in which RORA deficiency can impact many
autism genes.
The researchers also determined that many of the 18 newly identified
autism genes affect the operation of a small subset of biological pathways in the brain.
«Researchers ferret out function of
autism gene.»
The team pares down a list of about 500 likely causal genes to slightly more than 200 best «candidate»
autism genes.
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.
«Devastating de novo mutations in
autism genes should be under strong negative selection pressure,» he explains.
The team speculates that the «high - risk»
autism genes they carry may generate other effects in these women.
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.
We know that autism is a highly genetic condition, and mothers who carry
autism genes are more likely to be anxious and have more diligent personalities.
202/4: 00 The next wave of
autism gene discovery by targeted sequencing of thousands of patients.
Not exact matches
Scientists have also discovered that since the placenta shares
genes with your baby, its appearance or molecular properties might provide early signs of other conditions including preeclampsia, premature birth, genetic diseases and even
autism.
In addition to the new work's potential for RS, there is speculation that it could pave the way to treatments for other neurological disorders, such as learning disabilities, schizophrenia,
autism and newborn encephalopathy as well as some mental retardation that has also been linked to the Mecp2
gene.
But over the past decade, researchers have identified hundreds of
gene variations that seem to affect brain development in ways that increase the risk of
autism.
Researchers have assumed that mothers are more likely to pass on
autism - promoting
gene variants.
There is no one
gene that, when mutated, causes
autism.
Now, a new study probing so - called noncoding DNA has found that alterations in regions that regulate
gene activity may also contribute to
autism.
A new mouse model of a genetically - linked type of
autism reveals more about the role of
genes in the disorder and the underlying brain changes associated with
autism's social and learning problems.
«The extensive overlap in risk
genes for
autism and cancer, many of which are chromatin remodeling factors, supports the idea of repurposing epigenetic drugs used in cancer treatment as targeted treatments for
autism,» said Yan.
«The advantage of being able to adjust a set of
genes identified as key
autism risk factors may explain the strong and long - lasting efficacy of this therapeutic agent for
autism.»
«
Autism involves the loss of so many
genes,» Yan explained.
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
«
Autism's social deficits are reversed by an anti-cancer drug: Using an epigenetic mechanism, romidepsin restored gene expression and alleviated social deficits in animal models of autism.&
Autism's social deficits are reversed by an anti-cancer drug: Using an epigenetic mechanism, romidepsin restored
gene expression and alleviated social deficits in animal models of
autism.&
autism.»
Their report, published May 10 in the journal Nature Communications, suggests that among more than a dozen different lines of mice developed around the world to mirror
autism caused by mutations to the SHANK3
gene, Duke researchers are the first to create a mouse in which that
gene has been completely eliminated.
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.
Since many
genes are altered in
autism, the UB scientists knew a histone modifier might be effective.
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.
Without getting too technical, the
autism - associated TMLHE
gene encodes an enzyme that the body needs to manufacture carnitine.
Autism risk mutations inactivate this
gene and, in the absence of their own ability to produce carnitine and without adequate outside supplementation, neural stem cells become less efficient at self - renewal.
Page and his colleagues, who use animal models to understand how
autism risk factors impact the developing brain and to identify potential treatments for the condition, have found that animals with mutations in the
autism risk
gene phosphatase and tensin homolog (Pten) mimic aspects of
autism, including increased brain size, social deficits and increased repetitive behavior.
The researchers identified for the first time master
genes that they believe control hundreds of other
genes which are linked to Alzheimer's disease, Parkinson's disease, post-traumatic stress disorder, stroke, attention deficit hyperactivity disorder,
autism, depression, schizophrenia and other disorders.
As the
autism risk
gene is located on the X chromosome and males have only one X chromosome (females have two), they are at greater risk.
Working with this hypothesis, the researchers conducted a statistical analysis of the CX3CR1
gene in over 7000 schizophrenia and
autism patients and healthy subjects, finding one mutant candidate, a single amino acid switch from alanine to threonine, as a candidate marker for prediction.
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.
«By greatly narrowing the specific
genes involved in social disorders, our findings will help uncover targets for treatment and provide measures by which these and other treatments are successful in alleviating the desperation of
autism, anxiety and other disorders,» says Korenberg.
His team is now looking at patterns of
gene activity in the four brains to work out whether it is possible to detect early signs associated with conditions like
autism.
Singer now believes that her daughter's
autism was largely caused by
genes, but genetic testing when she was first diagnosed revealed no known pathogenic deletions or duplications in her genome.
Children of scientists and engineers may inherit
genes that not only confer intellectual talents but also predispose them to
autism
In all CS cases, said Morrow who treats
autism patients at the E. P. Bradley Hospital in East Providence, boys have a mutation on the SLC9A6
gene on the X chromosome that disables production of a protein called NHE6 that is important for neurological development.