Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy.

ABSTRACT: The heart employs a specialized ribosome in its muscle cells to translate genetic information into proteins, a fundamental adaptation with an elusive physiological role^1-3. Its significance is underscored by the discovery of neonatal patients suffering from often fatal heart failure caused by severe dilated cardiomyopathy when both copies of the gene RPL3L are mutated^4-9. RPL3L is a muscle-specific paralog^1-3 of the ubiquitous ribosomal protein L3 (RPL3), which makes the closest contact of any protein to the ribosome's RNA-based catalytic center¹⁰. RPL3L-linked heart failure represents the only known human disease associated with tissue-specific ribosomes, yet the underlying pathogenetic mechanisms remain poorly understood. Intrigui

SUBMITTER: Murphy MR 

PROVIDER: S-EPMC11722222 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature