A gene that causes early-onset of Alzheimer’s disease has been discovered by a French research team.
Mutations were detected on the gene SORL1, which regulates the production of a peptide involved in Alzheimer’s disease.
The research, led by Dr Dominique Campion and Didier Hannequin, of the Inserm unit 1079 and Centre national de référence malades Alzheimer jeunes, University Hospital Rouen, studied the genes from 130 families suffering from early-onset forms of Alzheimer’s disease.
A total of 116 of the families presented mutations on already known genes. Of the 14 remaining families, in whom there was no mutation observed, a new whole DNA sequencing technique was carried out that revealed evidence of mutations on a new SORL1 gene.
The SORL1 gene is a coding gene for a protein that is involved in the production of the beta-amyloid peptide, which is known to affect the functioning of the brain cells.
Two of the identified mutations are responsible for an under-expression of SORL1, which results in a rise 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,” says Dr Campion.
The results of the study have been published in the April 3 edition of Molecular Psychiatry.
Molecular Psychiatry April 3 2012
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