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Genetic Mutations - Key to Autism ?

by Monisha on  December 18, 2006 at 5:41 PM Research News   - G J E 4
Genetic Mutations - Key to Autism ?
Genetic mutations have been identified in some autistic children by French scientists that may open up new vistas in the study of the disorder. Sequencing of a gene called SHANK3 in over 200 participants, each suffering from Autism Spectrum Disorders (ASD) revealed mutations in the gene in three families. SHANK 3 encodes a protein which interacts with certain other proteins termed neuroligins which play a role in generating impulses to the nerves, spinal column and the brain. Thomas Bourgeron of the Pasteur Institute in Paris opines that though the mutations are limited to few individuals they may have far reaching implications - as they involve the gene involved in ASD.
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ASD affects communication skills which dictate the social interaction and the behavior of the individual. It affects approximately six in every thousand children. 3 to 6 percent of these can be attributed to chromosomal rearrangements. It is the region of the Chromosome 22 which houses the SHANK3 gene which is affected. The three families which displayed mutations exhibited varying degrees of deletions of the gene with differing manifestations. Additional copy of the gene was found in a boy who suffered from Aspergus Syndrome which is a milder version of autism. His sister on the other hand was autistic with the instance of SHANK 3 deletion.

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Autism still remains an enigma affecting little children before they turn 30 months old. Some of these children called Autistic Savants, exhibit exceptional artistic, mathematical or musical skills.

Source: Medindia
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How would you explain babies meeting their milestones in the first year of life then losing them thereafter. Should siblings born after an autistic diagnosis of an older child be tested for mutations in the gene called Shank 3 and at what age should the testing be conducted (at birth, a few months old, a year old?) This could be a vital test especially in families that already have a child diagnosed with ASD.
Carol50 Sunday, March 8, 2009

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