Mutation in MRPS34 Compromises Protein Synthesis and Causes Mitochondrial Dysfunction

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Mitochondria make most of the energy required by eukaryotic cells and therefore they are essential for their normal function and survival. Mitochondrial function is regulated by both the mitochondrial and nuclear genome. Mutations in nuclear genes encoding mitochondrial proteins lead to mitochondrial dysfunction and consequently diminished energy production, a major symptom of metabolic and mitochondrial diseases. The molecular mechanisms that regulate mitochondrial gene expression and how dysfunction of these processes causes the pathologies observed in these diseases are not well understood. Messenger RNAs encoded by mitochondrial genomes are translated on mitochondrial ribosomes that have unique structure and protein composition. Mitochondrial ribosomes are a patchwork of core proteins that share homology with prokaryotic ribosomal proteins and mitochondria-specific proteins, which can be unique to different organisms. Mitochondria-specific ribosomal proteins have key roles in disease however their functions within mitochondria are not known. Here we show that a point mutation in a mammalian-specific ribosomal protein causes mitochondrial dysfunction, heart abnormalities and progressive liver disease. This mouse provides a valuable model to elucidate the pathogenic mechanisms and progression of metabolic diseases with age, while enabling a more thorough understanding of mitochondrial ribosomes and protein synthesis.

Vyšlo v časopise: Mutation in MRPS34 Compromises Protein Synthesis and Causes Mitochondrial Dysfunction. PLoS Genet 11(3): e32767. doi:10.1371/journal.pgen.1005089
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1005089

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