Researchers Identify Genes That Delay Alzheimer’s Disease

Researchers Identify Genes That Delay Alzheimer’s Disease
Researchers have discovered a network of nine genes that play a key role in Alzheimer's disease onset. The study entitled “APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer’s disease” was published in the journal Molecular Psychiatry. Alzheimer’s disease age of onset varies greatly between individuals, a phenotype linked to causal mutations (permanent changes in nucleotide sequences within the genome). In this study, a team of scientists analyzed around 50,000 functional genomic variants, ranging from common to rare mutations, in 71 Alzheimer’s patients that carried a presenilin-1 (PSEN1) mutation, often referred as the Paisa mutation which is associated with early-onset of Alzheimer’s disease. Scientists identified the APOE*E2 allele as a modifier of Alzheimer’s disease age of onset. Most importantly, they discovered it could delay disease age onset by 12 years. When analyzing potential genes interacting with APOE*E2 allele, the team identified genes involved in cell proliferation, protein degradation, apoptotic and immune dysregulation, processes that might modify the age of onset. The Columbian family studied suffers from a type of hereditary Alzheimer's, making them a unique resource in the fight against the disease because they are a large, close-knit family living in a specific region in the western mountains of Columbia.  Associate Professor Mauricio Arcos-Burgos from The John Curtin School of Medical Research (JCSMR) at The Australian National University and one of study co-lead authors commented in a
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