Skip to main content

Home/ Autism Teachers/ Group items tagged mutation

Rss Feed Group items tagged

Filter: All | Bookmarks | Topics Simple Middle
Tero Toivanen

A week ago, a new study published in the Archives of General - 0 views

www.theautismnewswire.com/NewsITems.aspx

study autism research gene mutation ASD sporadic spectrum disorders de novo spontaneous mutations intellectual disability epilepsy

shared by Tero Toivanen on 22 May 11 - No Cached
  • The Howard Hughes Medical Institute describes how researchers using "high-throughput gene sequencing technology" were able to identify several de novo or spontaneous gene mutations in 20 children with sporadic autism spectrum disorders -- that is, their family members showed no other sign of autism.
  • The team identified 21 spontaneous mutations -- meaning they weren't inherited from either parent -- in the children's DNA. Eleven of these were mutations that would alter the protein encoded by the affected gene. In four of the 20 children, the researchers found mutations that were severe, some of which have been previously linked to autism, intellectual disability, and epilepsy.
  • one child had a mutation in the GRIN2B gene, which is crucial for neuronal signaling.
  • ...3 more annotations...
  • Another individual had an extra nucleotide in FOXP1, a gene that, along with its close relatives, has been heavily implicated in language defects.
  • These new findings support the 'multi-hit' model of autism, which suggests that having more than one mutation can cause or worsen symptoms of autism and other brain disorders. The different combinations of mutations may contribute to the heterogeneity in ASDs.
  • That such different combinations of genetic mutations contribute to a child being autistic could account for why individuals with an ASD diagnosis have some very similar, and very different, features.
  • Tero Toivanen on 22 May 11
     
    "The Howard Hughes Medical Institute describes how researchers using "high-throughput gene sequencing technology" were able to identify several de novo or spontaneous gene mutations in 20 children with sporadic autism spectrum disorders -- that is, their family members showed no other sign of autism."
Tero Toivanen

Mutations in 3 Genes Linked to Autism Spectrum Disorders - 1 views

www.theautismnewswire.com/NewsITems.aspx

genes linked autism spectrum disorders research

shared by Tero Toivanen on 08 Apr 12 - No Cached
  • Mutations in 3 Genes Linked to Autism Spectrum Disorders : Mutations in three new genes have been linked to autism, according to new studies including one with investigators at Mount Sinai School of Medicine
  • The findings, in a trio of papers revealing new genetic targets in autism, are published in the April 4th online issue of the journal Nature.
  • The genes with mutations identified in the studies – CHD8, SNC2A, and KATNAL2 – were discovered with a new state-of-the-art genomics technology known as exome sequencing, where all protein coding regions of the genome, called the exome, are analyzed.
  • ...3 more annotations...
  • The researchers say that with further characterization of the genes and sequencing of genes in thousands of families, they will be able to develop novel therapeutics and preventive strategies for autism.
  • The institutions involved in this study sequenced data from more than 500 families (both parents and the affected child), examining the protein-enriched areas of the genome.
  • “When the same mutations are found in multiple affected children and none are found in children without autism, we believe that we have identified mutations that collectively affect a higher proportion of individuals with autism,” said Dr. Buxbaum. “Our studies revealed that the proteins encoded by the mutated genes interact with each other far more than expected, demonstrating significantly greater connectivity than would be expected.”
Tero Toivanen

Research on the genomics of autism from the Center for Biom - 0 views

www.theautismnewswire.com/NewsITems.aspx

research autism genomics genes DNA gene alterations brain development nerve signaling

shared by Tero Toivanen on 19 Mar 11 - No Cached
  • Research on the genomics of autism from the Center for Biomedical Informatics at The Childrens Hospital of Philadelphia indicated that several genes and genomic variants contribute to autism. The gene alterations are rare but when they are in play, they seem to disrupt genes that are significantly involved in brain development and nerve signaling.
  • According to the September 15, 2010 issue of Science Translational Medicine, males with certain DNA alterations to their X-chromosome are at high risk of having autism.
  • This research was performed at the Centre for Addiction and Mental Health (CAMH) and The Hospital for Sick Children (SickKids), in Toronto Canada.
  • ...6 more annotations...
  • One percent of boys with autism involved in the study had mutations in the PTCHD1 gene on the X-chromosome. No boys without autism showed this mutation.
  • Girls who also had this mutation did not seem to exhibit autistic traits. It appears that girls may be protected from developing autism because they have a second X-chromosome.
  • Still these girls could be carriers, passing on the mutation to their children. Their sons could then have autism.
  • Certain rare genetic variants were found 20 percent more in children with autism than in other children. Researchers also discovered new disruptions, where a child of non-autistic parents had autism.
  • t appears that some children have private genetic mutations not passed on genetically, and this leaves them more susceptible to autism. Interestingly, each child showed a different disturbance in a different gene.
  • Researchers hope to gain more information as they identify groups of disrupted genes. Ultimately they hope to be able to develop treatments for autism.
Tero Toivanen

Facing Autism in New Brunswick: Evidence of Common Genes Linking Autism Spectrum Disord... - 0 views

autisminnb.blogspot.com/...mmon-genes-linking-autism.html

autism intellectual disability genes SHANK2 mental retardation genetics mutation research

shared by Tero Toivanen on 07 Jun 10 - Cached
  • genetic mutations in the SHANK2 gene, partially responsible for linking nerve cells,  and variants in the number of gene copies that were common to patients with autism and patients with mental retardation.
  • the same mutation can be present in an autistic patient with normal intelligence and in a mentally impaired patient
  • Our findings further link common genes between ASD and intellectual disability.
  • Tero Toivanen on 07 Jun 10
     
    Link between Autism and intellectual disability?
Tero Toivanen

Researchers from the CHUM Research Centre (CRCHUM) have iden - 0 views

www.theautismnewswire.com/NewsITems.aspx

autism research genetics gene SYN1 genetic cause epilepsy

shared by Tero Toivanen on 17 Apr 11 - No Cached
  • The results show for the first time the role of the SYN1 gene in autism, in addition to epilepsy, and strengthen the hypothesis that a deregulation of the function of synapse because of this mutation is the cause of both diseases
  • until now, no other genetic study of humans has made this demonstration.
  • The different forms of autism are often genetic in origin and nearly a third of people with autism also suffer from epilepsy.
  • ...2 more annotations...
  • Although mutations in other genes involved in the development of synapses (the functional junction between two neurons) have previously been identified, this mechanism has never been proved in epilepsy in humans until the present study.
  • The results of the present study were published in the latest online edition of Human Molecular Genetics.
Tero Toivanen

Research adds to evidence that autism is a brain 'connectivity' disorder - 1 views

www.physorg.com/news182327031.html

autism research autism spectrum autism spectrum disorders brain miswiring

shared by Tero Toivanen on 10 Jan 10 - Cached
  • Now, researchers led by Mustafa Sahin, MD, PhD, of Children's Department of Neurology, provide evidence that mutations in one of the TSC's causative genes, known as TSC2, prevent growing nerve fibers (axons) from finding their proper destinations in the developing brain.
  • Sahin and colleagues showed that when mouse neurons were deficient in TSC2, their axons failed to land in the right places.
  • Further investigation showed that the axons' tips, known as "growth cones," did not respond to navigation cues from a group of molecules called ephrins.
  • ...2 more annotations...
  • Although the study looked only at retinal connections to the brain, the researchers believe their findings may have general relevance for the organization of the developing brain. Scientists speculate that in autism, wiring may be abnormal in the areas of the brain involved in social cognition.
  • there are either too many connections or too few connections between different parts of the brain
  • Tero Toivanen on 10 Jan 10
     
    Research evidence suggesting that autism spectrum disorders, which affect 25 to 50 percent of TSC patients, result from a miswiring of connections in the developing brain, leading to improper information flow.
Tero Toivanen

The Genetics of Autism (ActionBioscience) - 1 views

www.actionbioscience.org/...dougherty.html

autism genetics savant

shared by Tero Toivanen on 08 Apr 09 - Cached
  • Despite this relatively high frequency, scientists do not understand the mechanism of this serious developmental problem. What they have discovered is that autism is one of the most heritable mental disorders known. In other words, autism appears to be largely genetic in origin, and most autistic children inherit the disorder from their parents.
  • In the case of PKU, geneticists have determined that retardation is due to genetics (a mutated phenylalanine hydroxylase gene) and the environment (a phenylalanine-containing diet).
  • In the case of autism, the likelihood that the sibling of an affected child also would be affected is between three and six percent.
  • ...3 more annotations...
  • Nonetheless, this incidence is about 100 times greater than the rate at which autism affects unrelated people in the population.
  • One study showed that the likelihood that the identical twin of an autistic child also would be autistic was 82 percent, whereas the equivalent rate for fraternal twins was only 10 percent.
  • With sophisticated statistical techniques and numerous twin studies, behavioral geneticists now believe that as much as 90 percent of the behavioral phenotype of autism is related to inherited genes.
  • Tero Toivanen on 08 Apr 09
     
    With sophisticated statistical techniques and numerous twin studies, behavioral geneticists now believe that as much as 90 percent of the behavioral phenotype of autism is related to inherited genes.
1 - 8 of 8
Showing 20▼ items per page