Tackling the Global Issue of Ancestral Disparities in Alzheimer Disease: Margaret Pericak-Vance, PhD

WATCH TIME: 6 minutes

"We know there’s a high genetic heritability of Alzheimer. It’s not the only cause. There are other environmental causes and influences, but there is a huge genetic component, and that’s been shown numerous times and multiple genes have been described.”

Researchers have not identified a specific gene that directly causes late-onset Alzheimer disease (AD); however, having a genetic variant of the apolipoprotein E (APOE) gene on chromosome 19 does increase a person’s risk. The APOE gene is involved in making a protein that helps carry cholesterol and other types of fat in the bloodstream. For early-onset AD, the 3 single-gene mutations associated with the condition include amyloid precursor protein (APP) on chromosome 21, presenilin 1 (PSEN1) on chromosome 14 and presenilin 2 on chromosome 1.

Previous literature has shown that these risks vary based on ancestral background, as African American individuals are twice as likely as non-Hispanic White individuals to have AD, while Hispanic individuals are 1.5 times as likely to have AD compared with their non-Hispanic White counterparts. Identifying those who may be more prone to AD, and thus prescribing a treatment strategy early, remains a critical component to care and avoiding further neuron death.

Similar to previous efforts, the University of Miami Miller School of Medicine recently announced they will be leading part of a large-scale, international genetics study to understand the risks of AD in underrepresented African ancestry populations and Hispanic/Latinx groups. Margaret Pericak-Vance, PhD, director, John P. Hussman Institute of Genomics, and Dr. John T. Macdonald Foundation Professor of Human Genetics, University of Miami, will oversee the overall efforts of the principal investigators across several domestic and international sites. To learn more about the background of this study, including the previous knowns and unknowns about genetic AD risk, NeurologyLive® sat down with Pericak-Vance.