@article {2155,
	title = {Genetic, clinical, molecular, and pathogenic aspects of the South Asian-specific polymorphic MYBPC3 variant.},
	journal = {Biophys Rev},
	volume = {12},
	year = {2020},
	month = {2020 Aug},
	pages = {1065-1084},
	abstract = {<p>Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disease characterized by ventricular enlargement, diastolic dysfunction, and increased risk for sudden cardiac death. Sarcomeric genetic defects are the predominant known cause of HCM. In particular, mutations in the myosin-binding protein C gene (MYBPC3) are associated with ~ 40\% of all HCM cases in which a genetic basis has been established. A decade ago, our group reported a 25-base pair deletion in intron 32 of MYBPC3 (MYBPC3) that is uniquely prevalent in South Asians and is associated with autosomal dominant cardiomyopathy. Although our studies suggest that this deletion results in left ventricular dysfunction, cardiomyopathies, and heart failure, the precise mechanism by which this variant predisposes to heart disease remains unclear. Increasingly appreciated, however, is the contribution of secondary risk factors, additional mutations, and lifestyle choices in augmenting or modifying the HCM phenotype in MYBPC3 carriers. Therefore, the goal of this review article is to summarize the current research dedicated to understanding the molecular pathophysiology of HCM in South Asians with the MYBPC3 variant. An emphasis is to review the latest techniques currently applied to explore the MYBPC3 pathogenesis and to provide a foundation for developing new diagnostic strategies and advances in therapeutics.</p>
},
	issn = {1867-2450},
	doi = {10.1007/s12551-020-00725-1},
	author = {Arif, Mohammed and Nabavizadeh, Pooneh and Song, Taejeong and Desai, Darshini and Singh, Rohit and Bazrafshan, Sholeh and Kumar, Mohit and Wang, Yigang and Gilbert, Richard J and Dhandapany, Perundurai S and Becker, Richard C and Kranias, Evangelia G and Sadayappan, Sakthivel}
}
