SORL1 gene may be the cause of early onset Alzheimer's disease
Thursday 05 April 2012
A research team from INSERM has shown that mutations of the SORL1 gene seem to contribute to the development of early onset Alzheimer's disease.
The research team, led by Dr. Dominique Campion and Prof Didier Hannequin, studied the genes from 130 families living with early-onset forms of Alzheimer's disease. 116 of these families presented mutations on the known genes. In the 14 remaining families, no mutation was observed.
A DNA study of the genome of the 14 families showed evidence of mutations on the SORL1 gene. This is a coding gene for a protein involved in the production of beta amyloid and is known to affect neuron function.
Two of the identified mutations are responsible for a decrease in SORL1, resulting in increased production of beta amyloid. Dr Campion said: "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."