A new gene that causes early-onset of Alzheimer's disease has been identified by scientists. Dominique Campion and his research team at the Insert unit 1079 "Genetics of cancer and neuropsychiatric diseases" in Rouen showed that in the families of 5 of 14 patients suffering from the disease, mutations were detected on the gene SORL1.
This gene regulates the production of a peptide involved in Alzheimer's disease.
Precise genetic mutations have been seen to play a part in early-onset forms of Alzheimer's disease.
However, there is a sub-population of patients in whom there is no mutation of these genes. So how can these patients, in whom there are no pre-established mutations, be suffering from early-onset Alzheimer's?
To answer this question, the research team working under the leadership of Dominique Campion and Didier Hannequin, studied the genes from 130 families suffering from early-onset forms of Alzheimer's disease.
These families were identified by 23 French hospital teams within the framework of the "Alzheimer Plan". 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.
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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.
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The study has been published in the review Molecular Psychiatry.
Source-ANI