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.
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.
«This strongly suggests that, though there are hundreds of
autism risk genes, the number of underlying biological mechanisms will be far fewer,» he said.
Not exact matches
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.
«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.»
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.
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.
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.
Genetic studies have linked a number of
risk genes to
autism spectrum disorder (ASD).
The segment contains several
genes, one of which raises the
risk of
autism.
«If there are 1,000
genes in the population that can contribute to
risk in varying degrees and each has multiple developmental functions, it is not immediately obvious how to move forward to determine what is specifically related to
autism,» State said.
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.
Common
gene variants that have minor effects may contribute about half the
risk of developing
autism
It may be no coincidence that many of the
genes thought to increase the
risk of
autism are also involved in the division of cells.
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.
A new study suggests that environment accounts for more than half of
autism risk, while
genes are responsible for about 40 percent.
RORA regulates many
genes linked to
autism, including a
gene that influences prenatal testosterone levels, a known
risk factor for
autism.3
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.
This particular community includes many
genes associated with
risk for
autism.
For example, at least two of the
autism - associated
gene changes described in the paper were associated with increased
risk for seizures.
The UCLA team also demonstrated that while
autism and intellectual disability share similar
risk genes, the
genes behave uniquely, showing for the first time how the two disorders differ.
Earlier this year, scientists examining more than two million births in Sweden reported that inherited
genes make up about 50 percent of a child's
autism risk, while environmental factors make up the other half.
Rao and her team hope that pinpointing the importance of this trafficking mechanism in
autism spectrum disorders may lead to the development of new drugs for
autism that alter endosomal pH. As the use of genomic data becomes increasingly commonplace in the future, the step-wise strategy devised by her team can be used to screen
gene variants and identify at -
risk patients, she says.
«First map of
autism -
risk genes by function.»
They are the first to map groups of
autism -
risk genes by function, and to identify where and when these
genes normally play major roles in early brain development.
The team speculates that the «high -
risk»
autism genes they carry may generate other effects in these women.
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.
Many
genes that increase the
risk of
autism spectrum disorders have been identified, but their mechanisms remain largely unknown.
This approach has identified
genes that are relevant to for example
autism, as well as individual mutations that substantially increase or decrease the
risk for e.g. cardiovascular disease.
The researchers also determined that rare inherited
gene variations — those found in less than 5 % of people — contribute another 3 % of
autism population
risk.
Also, being homozygous for a common variant in the child's COMT (catechol - O - methyltransferase)
gene was linked to over 7 times the estimated
autism risk in mothers who did not take the supplements around conception time, in comparison to children with other genotypes whose mothers did take periconceptional prenatal vitamins.
Increased
autism risk was also linked to other maternal
gene variants related to less efficient one - carbon metabolism, but only when the mother did not take the prenatal vitamins in the early months before and immediately after conception.
Autism is a «really complicated» disorder, and the evidence to date suggests that a combination of genes and so - called environmental factors — some of which may increase the risk of both autism and schizophrenia — are involved, says Patrick F. Sullivan, M.D., lead author of the study and director of the Center for Psychiatric Genomics at the University of North Carolina School of Medicine, in Chapel
Autism is a «really complicated» disorder, and the evidence to date suggests that a combination of
genes and so - called environmental factors — some of which may increase the
risk of both
autism and schizophrenia — are involved, says Patrick F. Sullivan, M.D., lead author of the study and director of the Center for Psychiatric Genomics at the University of North Carolina School of Medicine, in Chapel
autism and schizophrenia — are involved, says Patrick F. Sullivan, M.D., lead author of the study and director of the Center for Psychiatric Genomics at the University of North Carolina School of Medicine, in Chapel Hill.