«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.
«Researchers ferret out function
of autism gene.»
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.
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.
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.
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.
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.
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.
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.
«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.
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.
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.
Additionally, when the researchers checked their network against the DNA
of patients with nonsyndromic, or «stand - alone,»
autism, they found abnormalities involving three
of the network
genes.
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).
Both findings suggest that different types
of autism may share a common pathway even when they occur in distinct syndromes or alone — something that wasn't clear just from looking at the
genes.
Scientists have identified the first
gene that may contribute to
autism, a type
of mental retardation long thought to run in families.
Cook adds that the short form
of the
gene is only one factor in the disorder, as it occurs in 16 %
of the general population, while less than 0.1 % is afflicted with
autism.
Ed Cook, a psychiatrist at the University
of Chicago Medical Center, reasoned that a
gene that regulates serotonin levels might be involved in
autism.
Results from a statistical analysis shows a cluster
of SNPs — single nucleotide polymorphisms — in one section
of a single
gene, indicating the location
of a mutation likely linked to
autism.
Packer was not involved with this project but has been compiling a list
of genes implicated in
autism spectrum disorders.
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.
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.
Anderson and colleagues focused on the
gene UBE3A, multiple copies
of which causes a form
of autism in humans (called isodicentric chromosome 15q).
He will promote high - throughput technologies in areas that are «poised for this kind
of approach,» such as
gene transcription and
autism studies.
Led by Matthew P. Anderson, MD, PhD, Director
of Neuropathology at BIDMC, the scientists determined how a
gene linked to one common form
of autism works in a specific population
of brain cells to impair sociability.
«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 identification
of genes related to
autism spectrum disorder (ASD) could help to better understand the disorder and develop new treatments.
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.
The segment contains several
genes, one
of which raises the risk
of autism.
Large - scale
gene - sequencing projects are revealing hundreds
of autism - associated
genes.
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.
In 2010 biologist Valerie Hu
of the George Washington University Medical Center and her colleagues found that brains
of people with
autism have low levels
of a protein produced by a
gene called retinoic acid — related orphan receptor - alpha (RORA).
They contend that upsets in the tug -
of - war between imprinted
genes in the brain could help explain the origins
of some mental illnesses, including
autism and schizophrenia.
«This strongly suggests that, though there are hundreds
of autism risk
genes, the number
of underlying biological mechanisms will be far fewer,» he said.
Mutations
of the Fmr1
gene are linked to developmental delays and conditions including
autism and Parkinson's disease.
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.