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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

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."
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