Researchers Seek Families Especially Susceptible to Alzheimer’s Disease for Biomarkers, Genetic Mutations

Researchers Seek Families Especially Susceptible to Alzheimer’s Disease for Biomarkers, Genetic Mutations
Researchers at Atlanta's Emory University, under the guidance of neurologist Dr. Allan Levey, are studying the lineage of a specific family whose members are exceptionally prone to the development of late-onset Alzheimer’s disease in the search for new causes, such as novel genetic mutations, biomarkers, and brain changes. The ongoing research could lead to the development of novel therapies, identification of predictive markers of disease and the development of new drugs and therapies that may stop or slow the on-set of dementia in pre-symptomatic patients. Genetic predisposition for Alzheimer’s has been the subject of extensive research in the field of neurodegenerative diseases with the identification of susceptibility genes. One example is the APOE ε4 gene, a genetic factor associated with a higher risk of developing the disease and a higher risk of early onset of AD, but not a cause as a single factor. Stronger genetic determinants have been found for early onset AD (before age 60), primarily three autosomal dominant genes which, if present, can cause the disease. One of the most interesting cases, reported by several media outlets including The New York Times, involved a large family from the Andes in Colombia whose members were highly susceptible to early-onset Alzheimer’s. Researchers came from distant institutions to study the members of this family and it was eventually found that the susceptibility was due to the Paisa mutation, an altered protein on the presenilin-1 gene on chromosome 14. The family was thought to be a unique case, but now this may no longer be true. More than a decade ago, Levey began working on the case of an elderly woman who had been experiencing progressive memory loss. An evaluation of her family history revealed
Subscribe or to access all post and page content.

Leave a Comment

Your email address will not be published. Required fields are marked *