Genetic study uncovers mutation associated with fibromuscular dysplasia

Credit: CC0 Public Domain

Understanding of fibromuscular dysplasia (FMD), a rare blood vessel disease, is making the jump from the laboratory to the clinic with new findings about a genetic variant.

Researchers found the mutation in a gene that is associated with classical Ehlers-Danlos Syndrome as well, in multifocal FMD. That means it could help clinicians understand whether a person inherited the from a relative or another mechanism, in affected families.

"We identified four independent families with the same genetic variant in COL5A1 and vascular disease in a pattern of dysplasia-associated , including arterial dissections and multifocal FMD," says senior author Santhi Ganesh, M.D., an associate professor of internal medicine and , and a cardiologist at the Michigan Medicine Frankel Cardiovascular Center. "Notably, the variant appears to have been inherited from a shared ancestral founder."

Ganesh says the implication of this finding is that other carriers of this variant may exist in the population. The pattern of arterial involvement among carriers of the COL5A1 "G514S" variant is unique, providing clinicians with clues for when to suspect its involvement.

"The identified genetic variant meets clinical criteria for pathogenicity—a first for FMD," she says.

Further, additional variants in the COL5A1 gene were associated with a higher rate of arterial dissections among individuals with multifocal FMD.

Explore further

Uncovering the genetics behind heart attacks that surprise young, healthy women

More information: Julie Richer et al, Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia, Arteriosclerosis, Thrombosis, and Vascular Biology (2020). DOI: 10.1161/ATVBAHA.119.313885
Citation: Genetic study uncovers mutation associated with fibromuscular dysplasia (2020, September 24) retrieved 24 January 2022 from
This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no part may be reproduced without the written permission. The content is provided for information purposes only.

Feedback to editors