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.
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.
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.
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.
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.
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.
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.
The link to
autism suggests that a therapy that resets
gene behavior in fragile X syndrome may also ease
other developmental disorders.
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.
Researchers also found higher levels of expression of the
gene MET, which is linked to
autism spectrum disorder, in the human prefrontal cortex compared to the
other primates tested.
Results from the analysis confirmed previous findings of some copy number variants already associated with
autism, but they also found a host of
other genes (SHANK2, SYNGAP1, DLGAP2 and the X chromosome — linked DDX53 - PTCHD1 locus) in which mutations seem to be linked to
autism.
By mapping the neural processes involved as birds learn mating songs, scientists hope to someday use that knowledge to target specific
genes disrupting speech in patients with
autism or
other neurodevelopmental conditions.
The researchers plan to investigate what percentage of individuals individuals with intellectual disability and
autism may carry CC2D1A mutations and to determine whether
other genes affect neurons in a similar fashion.
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.
Still, Dudley feels that evolutionary genetic analysis can help identify the most relevant
genes and pathological mechanisms at play in schizophrenia and possibly
other mental illnesses that preferentially affect humans — that is, neurodevelopmental disorders related to higher cognition and GABA activity, including
autism and attention - deficit / hyperactivity disorder.
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.
«We discovered
gene - related disruption of circuits that connect the autistic brain's layers and hemispheres to each
other,» explained Geschwind, who is director of the UCLA Neurogenetics Program and the Center for
Autism Research and Treatment and co-director of the Center for Neurobehavioral Genetics at UCLA.
The team speculates that the «high - risk»
autism genes they carry may generate
other effects in these women.
In the associated paper, Vitkup, Iossifov and
others use a novel form of analysis called NETBAG (network - based analysis of genetic associations) to identify «the large biological network of
genes affected by rare de novo CNVs in
autism.»
«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.»
The Kleefstra syndrome is a rare disease with intellectual disability,
autism spectrum disorders and
other developmental defects caused by EHMT1
gene mutation in humans.
MANDs share similar clinical phenotypes and are reported to be caused by deletions, duplications, or pathogenic variants of MBD5, a
gene that has been implicated in
Autism Spectrum Disorder (ASD) and shares pathways with
other ASD - associated
genes.
The short form of the serotonin transporter
gene promoter does not explain
autism, insists Dr. Cook, who heads a nationwide consortium of researchers looking for the genetic underpinnings of this disease, but it does appear to play a significant role, perhaps in concert with
other abnormalities which we've not yet uncovered.
DLGAP2, the
other gene listed in the accompanying graphic, has also been implicated in the development of
autism in a copy number variation (CNV) analysis of people with ASD.
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.
The results are consistent with
other biological studies which point to the likely interaction of several
genes in producing complex disorders such as
autism [36] and schizophrenia [37].