Arjun Masurkar, MD, PhD: Genetic Testing for Alzheimer Disease

December 14, 2019

Arjun Masurkar, MD, PhD, discusses how genetic testing could usher in a new wave of diagnostics for Alzheimer disease.

Diagnosing Alzheimer disease remains a challenge despite new advancements in recent years.

In an interview with MD Magazine®, Arjun Masurkar, MD, PhD, a neurologist and assistant professor in the departments of neurology and neuroscience & psychology at NYU Langone Health, explained that genetic testing could be crucial in the next 10 years for better diagnosing patients with the disease.

MD Magazine: What do you think the role of genetic testing will be for diagnosing patients with Alzheimer disease?

Masurkar: It's possible that genetic testing could play a role in the future when we have methods to modify the disease at early stages. Alzheimer’s disease genetics are pretty complicated.

There are 2 categories of genes that are at play. There are 3 genes that are autosomal dominant, so they're highly familial and if you have the gene you will get Alzheimer’s disease.

Those are very rare less than 1% of Alzheimer’s disease is explained by those mutations by those genes. However, there have been trials looking at people who have the gene and who aren't even symptomatic yet because they might be people who would be most implicated or most would be of most benefit to a disease modifying therapy.

There are other genes that play a risk factor role they may not be have as much of an effect as an autosomal dominant gene but on average they may impact the risk of late onset Alzheimer's disease by 4, 5, 6-fold. The most popular or common one is the apolipoprotein E4 allele, which has been known for quite some time.

It's associated with increased amyloid deposition earlier on at younger ages. Right now we don't know how to harness apolipoprotein E4 for therapeutic use, but there's a lot of research going on into how apolipoprotein E leads to amyloid deposition and how that leads to Alzheimer's disease and so someday perhaps E4 targeted therapies would be a benefit.