The expression of Lamin A mutant R321X leads to endoplasmic reticulum stress with aberrant Ca²⁺ handling.

ABSTRACT: Mutations in the Lamin A/C gene (LMNA), which encodes A-type nuclear Lamins, represent the most frequent genetic cause of dilated cardiomyopathy (DCM). This study is focused on a LMNA nonsense mutation (R321X) identified in several members of an Italian family that produces a truncated protein isoform, which co-segregates with a severe form of cardiomyopathy with poor prognosis. However, no molecular mechanisms other than nonsense mediated decay of the messenger and possible haploinsufficiency were proposed to explain DCM. Aim of this study was to gain more insights into the disease-causing mechanisms induced by the expression of R321X at cellular level. We detected the expression of R321X by Western blotting from whole lysate of a mutation carrier heart biopsy. When expressed in HEK293 ce

SUBMITTER: Carmosino M 

PROVIDER: S-EPMC5082401 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature