Obscurin Variants in  Patients With Left Ventricular Noncompaction

Left ventricular noncompaction (LVNC) is a rare type of cardiomyopathy, occurring less frequently than hypertrophic cardiomyopathy (HCM) and dilated CM (DCM). In our patient population, we identified a possible association between LVNC and variants in the obscurin (OBSCN) gene. Obscurins are giant sarcomeric proteins ( ≈700 to 900 kDa) that play key roles in myofibrillogenesis and cytoskeletal arrangement through interaction with several other binding partners, including the proteins titin, myomesmin, and obscurin-like-1 to generate a complex important for myofibrillar M-band function(1). While disrupting these interactions can have severe consequences for normal muscle function, obscurin ’s pathogenic involvement in cardiomyopathies is unclear.
Source: Journal of the American College of Cardiology - Category: Cardiology Source Type: research