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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.
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  • 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

Neuronal Circuits In Autism Can Be Reversed - 0 views

www.medicalnewstoday.com/...250295.php

autism research

shared by Tero Toivanen on 17 Sep 12 - No Cached
  • When the production of neuroligin-3 in the mice was reactivated, the nerve cells reduced the production of the glutamate receptors to a normal level and the structural defects in the brain typical for autism were gone. Consequently, these glutamate receptors could be targeted in the development of drugs that could stop autism from developing or even reverse it.
  • Tero Toivanen on 17 Sep 12
     
    "A specific dysfunction in neuronal circuits has been identified, by Professors Peter Scheiffele and Kaspar Vogt at the Biozentrum of the University of Basel, that results from autism. The researchers also discovered a way to reverse these neuronal changes. They believe that their findings, published in the journal Science, will have a great effect in drug development for treating 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

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.
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  • 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

NeuroLogica Blog » The Genetics of Autism - 0 views

www.theness.com/neurologicablog

autism genetics

shared by Tero Toivanen on 03 May 09 - Cached
  • What this means is that there is likely to be a complex set of many factors that contribute to ASD - not one single cause.
  • The same exact situation is true for other entities, like schizophrenia and attention deficit disorder (ADD).
  • One difference, however, is that schizophrenia and ADD likely represent changes to particular parts of the brain, while autism is likely due to changes in the global architecture of the brain.
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  • Getting back to the genetics of autism, current models are therefore consistent with what is being found when the genetics of autism is researched - researchers are finding many genes that predispose to autism in a subset of cases but no single or simple universal cause. At present, 133 different gene variants have been linked to autism.
  • This new research, conducted by Dr. Hakon Hakonarson of the Children’s Hospital of Philadelphia, is a genome wide analysis involving about 10,000 individuals.
  • The results are especially significant because the variants lie between two genes, called CDH9 and CDH10, which are known to play an important role in forming nerve connections in the brain.
  • The gene variants that correlated with ASD are for proteins that are involved in the process of neurons forming connections with each other. There is already other lines of evidence that suggest what is different in ASD brains is a decrease in the amount of interconnectedness and communication among neurons. It is therefore likely no coincidence that this study found genetic correlations for proteins involved with neuronal connections.
  • This also is compatible with the finding that many separate genes are potentially involved with ASD - for there are many separate genes and processes involved with forming and maintaining neuronal connections.
  • Tero Toivanen on 03 May 09
     
    A new genome-wide analysis of families with autism has found significant gene associations, adding to the growing evidence for strong genetic contribution to autism.
Tero Toivanen

What Do New Genetic Findings Mean to Families with Autism? - 0 views

autism.about.com/...an-to-families-with-autism.htm

autism genetics research

shared by Tero Toivanen on 02 May 09 - Cached
  • reply from lead researcher Hakon Hakonarson:
  • The variant we detected at the 5p14 locus (common variant) has been present for a long time in the genome (most likely since man moved out of Africa) and this region is highly conserved between species which means that it is regulating gene expression and gene function (the CHD10 gene being the most critical one).
  • We know that the association is strongest in those individual who have the greatest abnormalities in social skills/interactions and those that show least interest in interactions; we have not detected any other characteristics yet, but we keep working on it.
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  • Once we learn about this difference, we can then look for medications that block the consequences of the variant and once we make sure they are safe, we can then start testing these new medications in children who are at risk of developing autism, with the objective of preventing autism (i.e., avoid breakdown in connections between nerves and abnormality in brain connectivity).
  • Response: Yes, all of them could be tested in utero; we have identified 10 new variations (9 rare and 1 common) and we have replicated (and confired) four other once that were previously published (neurexin 1, contactin 4, 15q11 and 22q11). However, we do not have a yes or no answer as to whether the fetus will be autistic -- but if we are testing a fetus in an autistic family the value of the test is much higher.
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