Abstract P3033: The Pathogenic R120G Mutant Of Alpha-B-crystallin Accumulates Within Cardiac Mitochondria

Authors: Justin M Quiles, Liguo Chi, Rita H Najor, Åsa B Gustafsson

Published: 2022-11-14

DOI: 10.1161/res.131.suppl_1.p3033

Source: Full article


Abstract

Alpha-B-crystallin (CryAB) is an abundant molecular chaperone comprising nearly 5% of total cardiac mass. While predominately cytosolic, some studies note mitochondrial translocation of CryAB during stress. The autosomal dominant R120G mutation leads to CryAB misfolding and protein aggregation resulting in cardiomyopathy. Although mitochondrial dysfunction has been reported in cardiac-specific CryAB