Published in Nature Cardiovascular Research on September 13, the study emphasizes the role of the UBR4 gene in FMD and marks a significant advancement in understanding the disorder.

Advanced statistical methods allowed researchers to create mouse models that mimic certain aspects of human FMD, revealing key causal pathways.

This research created the first mouse model of FMD, providing insights into the role of UBR4 and its associated gene expression network in regulating vascular function.

The study found that changes in UBR4 levels significantly impacted vascular cell function and led to arterial widening in mouse models.

Researchers at Mount Sinai have identified a crucial genetic driver of fibromuscular dysplasia (FMD), a condition affecting up to 5% of adults that can lead to severe health complications such as high blood pressure, heart attack, and stroke.

The discovery of the UBR4 gene and its regulatory network opens new avenues for targeted treatments for FMD, particularly benefiting women, who represent about 90% of cases.

The DEFINE-FMD study, which involved gene sequencing fibroblast cells from 83 women with FMD and 71 healthy controls, was instrumental in uncovering genetic differences associated with the disorder.

Unlike atherosclerosis, FMD is not caused by plaque buildup, and many individuals may be unaware they have the condition.

Dr. Jason Kovacic, a senior author of the study, highlighted that until now, little was known about the causes and treatment of FMD, despite its recognition for over 80 years.

Mount Sinai is recognized nationally and globally for its excellence in cardiology and heart surgery, with its Fuster Heart Hospital ranked No. 1 in New York and No. 4 nationally for cardiology and vascular surgery.

Funding for the study came from the National Heart, Lung, and Blood Institute, along with additional philanthropic support.

FMD is characterized by abnormal cell growth in arterial walls, particularly affecting the carotid, renal, and coronary arteries.