Daily Archives: April 4, 2012

New mutations in coding region of genes, Age of parents, and unknown factors in 70% of ASD patients


The three genetic research papers on Autism Spectrum Disorder (ASD) in 2012, with links below, summarize that no single gene or gene complex candidate has yet been discovered to be the cause.

1) Dr Sanders and others showing the new mutations that are associated with Autism but not causal.
2) Dr Brian O’Roak and others show that for 70% of ASD cases with no previous cases in the family there is no known genetic cause. Researching the coding regions of genes they find that:
a) Parental age contributes to new mutations – risk of older father;
b) 39% of disruptive genes affect the beta-catenin/chromatin protein network resulting in the most severe autism;
c) CHD8 and NTNG1 were recurrent protein altering genes with new mutations.
3) Dr Benjamin Neale and others sequenced the coding region of the genes of ASD patients and their parents to show that new mutations in a polygenic model that affect a complex of protein pathways such as CHD8 and KATNAL2 are genuine risk factors for ASD.

Related Articles
1) Is Autism found in Africa?
2) Autism covered in six videos by National PBS TV channel
3) Any connection – Autistic child and Multiple sclerosis parent?

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Filed under Health, Research, Science


Ability to communicate improves during Fever or Seizure in some children with Autism?

The Nancy Lurie Marks Family Foundation reports on the observation by some parents that they find it easier to communicate to their Autistic child during a fever or seizure. Researchers are trying to find reasons for this in the hope it will give some answers to therapy protocol.

The site also suggests a reading list for Autism related research.

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April 4, 2012 · 1:46 pm