Proteomic and Functional Studies Reveal Detyrosinated Tubulin as Treatment Target in Sarcomere Mutation-Induced Hypertrophic Cardiomyopathy.

ABSTRACT:

Background

Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease. While ≈50% of patients with HCM carry a sarcomere gene mutation (sarcomere mutation-positive, HCM_SMP), the genetic background is unknown in the other half of the patients (sarcomere mutation-negative, HCM_SMN). Genotype-specific differences have been reported in cardiac function. Moreover, HCM_SMN patients have later disease onset and a better prognosis than HCM_SMP patients. To define if genotype-specific derailments at the protein level may explain the heterogeneity in disease development, we performed a proteomic analysis in cardiac tissue from a clinically well-phenotyped HCM patient group.

Methods

A proteomics screen was performed in cardiac ti

SUBMITTER: Schuldt M 

PROVIDER: S-EPMC7819533 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature