Unraveling obscurins in heart disease

摘要: Obscurins, expressed from the single OBSCN gene, are a family of giant, modular, cytoskeletal proteins that play key structural and regulatory roles in striated muscles. They were first implicated development heart disease 2007 when two missense mutations found patient diagnosed with hypertrophic cardiomyopathy (HCM). Since then, discovery over dozen missense, frameshift, splicing linked to various forms cardiomyopathy, including HCM, dilated (DCM), left ventricular non-compaction (LVNC), has highlighted as potential disease-causing gene. At this time, functional consequences identified remain largely elusive, much work yet be done characterize mechanisms pathological variants. Herein, we describe known date, discuss their impact on development, provide future directions order better understand involvement obscurins disease.