RPL10 Gene and Autism
A gene on the long arm of the X chromosome (Xq28) has been identified in two families affected by autism. Researchers have found two mutations in the RPL10 gene that codes for a ribosomal protein. The mutations cause amino acid changes which affect the regulation of the gene. The RPL10 gene has been isolated the brains of mice in the hippocampus region, part of the limbic system that is involved in autism.
From the Center for the Study of Autism:
The hippocampus, (shaped like a “sea horse”) appears to be primarily responsible for learning and memory. Damage or removal of the hippocampus will lead to an inability to store new information into memory. This sounds similar to Dr. Bernard Rimland’s cognitive theory of autism. In his 1964 award-winning book Infantile Autism, Dr. Rimland theorized that autistic children had difficulty relating new information to previously stored information. In addition, when the hippocampus is damaged or removed, animals will display stereotypic, self-stimulatory behaviors and hyperactivity.
Molecular Psychiatry, August 29, 2006
New Scientist, September 8, 2006
Technorati Tags: autism, autistic, autism spectrum disorders, genetics, genes, dna, rpl10, rpl10 gene, hippocampus, limbic system, disease, illness, health
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POSTED IN: Genetics of Disease
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1 opinion for RPL10 Gene and Autism
Autism Vox » RPL10 Gene and Autism
Sep 9, 2006 at 8:03 am
[…] Hsien at Genetics and Health has posted about the RPL10 Gene and Autism. A gene on the long arm of the X chromosome (Xq28) has been identified in two families affected by autism. Researchers have found two mutations in the RPL10 gene that codes for a ribosomal protein. […]
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