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A New Gene May Be the Cause of Early-Onset Alzheimer's
Posted: Thursday, April 5, 2012 8:29 PM
Joined: 12/6/2011
Posts: 3326

From Alzheimer's Daily News:

(Source: INSERM) - A new gene that causes the early-onset form of Alzheimer's disease has been discovered by the research team of Dominique Campion at the Insert unit 1079 "Genetics of cancer and neuropsychiatric diseases" in Rouen, France.

Precise genetic mutations have been seen to play a part in early-onset forms of Alzheimer's disease. The research team studied the genes from 130 families suffering from early-onset forms of Alzheimer's disease. Of these families, 116 presented mutations on the already known genes. But in the 14 remaining families, there was no mutation at all observed on these genes.

A DNA study of the genome of the 14 families showed evidence of mutations on a new SORL1 gene. This is a coding gene for a protein involved in the production of the beta-amyloid peptide and is known to affect the functioning of the brain cells.

Two of the identified mutations are responsible for an under-expression of SORL1, resulting in an increase in the production of the beta-amyloid peptide. "The mutations observed on SORL1 seem to contribute to the development of early-onset Alzheimer's disease. However, we still need to identify more clearly the way in which these mutations are transmitted on the SORL1 gene within families" said Campion.

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