ArticleHuman molecular genetics2019
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.
Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 46 citations in OpenAlex.
- Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics.JIMD reports · 2026Article
- Plasma miR-148b-3p is associated with CKD-related renal dysfunction and carotid plaque burden in patients with established coronary artery disease.Frontiers in cardiovascular medicine · 2026Article
- Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.American journal of human genetics · 2025Article
- Small-scale protocols to characterize mitochondrial Complex V activity and assembly in peripheral blood mononuclear cells.PloS one · 2025Article
- Mitochondrial ribosome biogenesis and redox sensing.FEBS open bio · 2024Review
- Biallelic variants inmedRxiv : the preprint server for health sciences · 2024Article
- Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation.iScience · 2024Article
- Identifying candidate genes and biological pathways in muscle development through multi-tissue transcriptome comparisons between male and female geese.Scientific reports · 2024Article
- Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis.Frontiers in cell and developmental biology · 2024Review
- Altered neuroepithelial morphogenesis and migration defects in iPSC-derived cerebral organoids and 2D neural stem cells in familial bipolar disorder.Oxford open neuroscience · 2024Article
- BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome.Nucleic acids research · 2023Article
- Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.Human molecular genetics · 2023Article
- Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.Human genetics · 2023Article
- Mitoribosome Biogenesis.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Structural analysis of mitochondrial rRNA gene variants identified in patients with deafness.Frontiers in physiology · 2023Article
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- Mendelian gene identification through mouse embryo viability screening.Genome medicine · 2022Article
- Functional analyses of mitoribosome 54S subunit devoid of mitochondria-specific protein sequences.Yeast (Chichester, England) · 2022Article
- Mutational Analysis and mtDNA Haplogroup Characterization in Three Serbian Cases of Mitochondrial Encephalomyopathies and Literature Review.Diagnostics (Basel, Switzerland) · 2021Article
Corrections and comments
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Authors and funding
18 authors at 5 institutions in 4 countries.
Funding
Abstract
Mitochondrial disorders are clinically and genetically heterogeneous and are associated with a variety of disease mechanisms. Defects of mitochondrial protein synthesis account for the largest subgroup of disorders manifesting with impaired respiratory chain capacity; yet, only a few have been linked to dysfunction in the protein components of the mitochondrial ribosomes. Here, we report a subject presenting with dyskinetic cerebral palsy and partial agenesis of the corpus callosum, while histochemical and biochemical analyses of skeletal muscle revealed signs of mitochondrial myopathy. Using exome sequencing, we identified a homozygous variant c.215C>T in MRPS25, which encodes for a structural component of the 28S small subunit of the mitochondrial ribosome (mS25). The variant segregated with the disease and substitutes a highly conserved proline residue with leucine (p.P72L) that, based on the high-resolution structure of the 28S ribosome, is predicted to compromise inter-protein contacts and destabilize the small subunit. Concordant with the in silico analysis, patient's fibroblasts showed decreased levels of MRPS25 and other components of the 28S subunit. Moreover, assembled 28S subunits were scarce in the fibroblasts with mutant mS25 leading to impaired mitochondrial translation and decreased levels of multiple respiratory chain subunits. Crucially, these abnormalities were rescued by transgenic expression of wild-type MRPS25 in the mutant fibroblasts. Collectively, our data demonstrate the pathogenicity of the p.P72L variant and identify MRPS25 mutations as a new cause of mitochondrial translation defect.
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