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Tero Toivanen

Scientists have shown how a single protein may trigger autis - 1 views

www.theautismnewswire.com/NewsITems.aspx

autism protein autistic spectrum disorders brain cells gene genes genetics biochemistry

shared by Tero Toivanen on 26 Mar 11 - No Cached
  • Tero Toivanen on 26 Mar 11
     
    Scientists have shown how a single protein may trigger autistic spectrum disorders by stopping effective communication between brain cells. While hundreds of genes linked to the condition have been found, the precise combination of genetics, biochemistry and other environmental factors which produce autism is still unclear.
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.
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  • 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

Autism-like behaviors reversed in mice: New hope for understanding autism - 3 views

www.sciencedaily.com/...121121145402.htm

autism research

shared by Tero Toivanen on 22 Nov 12 - No Cached
  • Tero Toivanen on 22 Nov 12
     
    "Researchers from McGill University and the University of Montreal have identified a crucial link between protein synthesis and autism spectrum disorders (ASD), which can bolster new therapeutic avenues."
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

BBC NEWS | Health | Genes 'have key role in autism' - 0 views

news.bbc.co.uk/...8020837.stm

autism genetics

shared by Tero Toivanen on 09 May 09 - Cached
  • The changes influence genes which help form and maintain connections between brain cells.
  • The Nature study highlighted one common genetic variant which, if corrected would cut cases of autism by 15%.
  • Previously, other genetic variants have been linked to autism, but they are all relatively rare.
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  • It found several genetic variants commonly associated with ASD, all of them pointing two specific genes found on chromosome 5 which control production of proteins which help cells stick to each other, and make nervous connections.
  • One variant, linked to a gene called CDH10, was so common - present in over 65% of cases of autism - that the researchers calculated that fixing it would cut the number of autism cases by 15%.
  • They also linked ASD rather less strongly to a group of about 30 genes which produce proteins that play a key role in enabling brain cells to migrate to correct places, and to connect to neighbouring cells.
  • Professor Simon Baron-Cohen, an autism expert at the University of Cambridge, said 133 genes had now been linked to the condition, and much work was needed to piece together how they interacted with each other and the environment.
  • The National Autistic Society said the exact causes of autism were unknown. In a statement, the society said: "There is evidence to suggest that genetic factors are responsible for some forms of autism. "However, the difficulty of establishing gene involvement is compounded by the interaction of genes and by their interaction with environmental factors. "Various studies over many years have sought to identify candidate genes but so far inconclusively."
  • Tero Toivanen on 09 May 09
     
    Scientists have produced the most compelling evidence to date that genetics play a key role in autism.
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.
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  • 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

New study confirms link between advanced maternal age and autism - 4 views

www.physorg.com/news184848483.html

autism maternal age risk research

shared by Tero Toivanen on 09 Feb 10 - Cached
  • Advanced maternal age is linked to a significantly elevated risk of having a child with autism, regardless of the father's age, according to an exhaustive study of all births in California during the 1990s by UC Davis Health System researchers.
  • The researchers note that understanding the relationship between increased parental age and autism risk is critical to understanding its biological causes. Earlier studies have observed that advanced maternal age is a risk factor for a variety of other birth-related conditions, including infertility, early fetal loss, low birth-weight, chromosomal aberrations and congenital anomalies.
  • One possible clue comes from a 2008 UC Davis study that found some mothers of children with autism had antibodies to fetal brain protein, while none of the mothers of typical children did. Advancing age has been associated with an increase in autoantibody production.
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  • They added that some persistent environmental chemicals accumulate in the body and also may have a role to play in autism, possibly contributing to the apparent effect of parental age.
  • The study also suggests that epigenetic changes over time "may enable an older parent to transfer a multitude of molecular functional alterations to a child ... thus epigenetics may be involved in the risks contributed by advancing parental age as a result of changes induced by stresses from environmental chemicals, co-morbidity or assistive reproductive therapy."
  • Tero Toivanen on 09 Feb 10
     
    Advanced maternal age is linked to a significantly elevated risk of having a child with autism, regardless of the father's age, according to an exhaustive study of all births in California during the 1990s by UC Davis Health System researchers.
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