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| Mitochondrial disorders v4.121 | MRPS25 | Achchuthan Shanmugasundram Classified gene: MRPS25 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.121 | MRPS25 | Achchuthan Shanmugasundram Gene: mrps25 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.120 | MRPS25 | Achchuthan Shanmugasundram Phenotypes for gene: MRPS25 were changed from ?Combined oxidative phosphorylation deficiency 50 to ?Combined oxidative phosphorylation deficiency 50, OMIM:619025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.119 | MRPS25 | Achchuthan Shanmugasundram reviewed gene: MRPS25: Rating: RED; Mode of pathogenicity: None; Publications: 31039582; Phenotypes: ?Combined oxidative phosphorylation deficiency 50, OMIM:619025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.113 | MRPS25 |
Hannah Knight gene: MRPS25 was added gene: MRPS25 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: MRPS25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS25 were set to 31039582 Phenotypes for gene: MRPS25 were set to ?Combined oxidative phosphorylation deficiency 50 Review for gene: MRPS25 was set to AMBER Added comment: PMID: 31039582 (2019) reported a 25-year-old man, born of unrelated parents, with a mitochondrial encephalomyopathy and a homozygous missense variant in the MRPS25 gene (P72L). Patient fibroblasts showed decreased protein levels of MRPS25, about one-tenth of controls. Levels of other polypeptides of the 28S ribosomal subunit were also decreased, suggesting that the mutation adversely affected assembly or stability of the 28S subunit. Further in vitro studies of patient fibroblasts showed impaired mitochondrial translation and decreased protein levels of respiratory chain complexes I, III, and IV. Expression of wildtype MRPS25 in patient fibroblasts resulted in partial restoration of OXPHOS protein levels. The findings suggested that MRPS25 is required for mitochondrial protein synthesis, and that this defect causes decreased levels of mitochondrial respiratory chain subunits and impaired mitochondrial translation. Sources: Literature |
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