LMNA Q353R Mutation Causes Dilated Cardiomyopathy Through Impaired Vitamin D Signaling.

A research letter published in the journal Circulation discusses the LMNA Q353R mutation, which is associated with dilated cardiomyopathy. The mutation causes DNA damage accumulation in the heart, leading to premature aging and poor prognosis. The study found that vitamin D2 showed efficacy in reducing DNA damage in patient-specific cardiomyocytes. Another study investigated the mechanism by which the mutation causes DNA damage and found that abnormal localization of the vitamin D receptor leads to reduced DNA repair. The intervention with vitamin D2 can reduce DNA damage and improve cardiac function. This research provides insights into potential treatments for LMNA-mutant cardiomyopathy using vitamin D. [Extracted from the article]