The Genetic Defect Causing Familial Alzheimer's Disease Maps on Chromosome 21

TLDR

Alzheimer’s disease is a leading cause of morbidity and mortality among the elderly, and autosomal dominant gene defects have been identified in several families. The study aims to isolate and characterize the gene on chromosome 21 to gain insights into familial Alzheimer’s disease and potentially all forms of the disease. The defective gene was mapped to chromosome 21, explaining the Alzheimer‑like pathology observed in Down syndrome.

Abstract

Alzheimer's disease is a leading cause of morbidity and mortality among the elderly. Several families have been described in which Alzheimer's disease is caused by an autosomal dominant gene defect. The chromosomal location of this defective gene has been discovered by using genetic linkage to DNA markers on chromosome 21. The localization on chromosome 21 provides an explanation for the occurrence of Alzheimer's disease-like pathology in Down syndrome. Isolation and characterization of the gene at this locus may yield new insights into the nature of the defect causing familial Alzheimer's disease and possibly, into the etiology of all forms of Alzheimer's disease.