Gene Variants Identified for Fibromuscular Dysplasia

Abstract

ibromuscular dysplasia (FMD) is a nonatherosclerotic, noninflammatory vascular disease that primarily affects the renal and internal carotid arteries, although its effects have been described in almost every arterial bed throughout the entire body. It is characterized by the proliferation of connective tissue and muscle fibers within the arterial vessel walls, which can result in stenosis of small and medium-sized arteries, impairing perfusion of the affected organ and resulting in ischemia. The most frequent form of FMD is multifocal disease, which is characterized by multiple stenoses occurring in the same artery, and it accounts for 70-80% of cases (Georges et al, 2021). Renal artery stenosis is a cause of hypertension but is a preventable risk factor for stroke and myocardial infarction, and FMD accounts for about 10% of cases. Although FMD primarily affects young to middle-aged women it can manifest at any age.Atherosclerosis in general has been extensively studied, and genetic susceptibilities have been defined. While progress has been made, knowledge of the pathogenesis or genetics of FMD is limited. PHACTR1, a pleiotropic locus involved in the genetic risk of several cardiovascular and neurovascular diseases, is the only one reported to be associated with FMD to date. Findings from a new study, however, show that 4 genetic variants that regulate gene expression in the arteries are connected to FMD (Georges et al, 2021). The study also confirmed the importance of a genetic target that had already been identified as associated with the disease.