Mitochondrial disorders

Gene: MRPS25

Red List (low evidence)

As reviewed by Hannah Knight, PMID:31039582 reported a single patient with a mitochondrial encephalomyopathy and a homozygous missense variant in the MRPS25 gene (p.Pro72Leu).

This gene has been associated with relevant phenotypes in OMIM (MIM #619025), but not in Gene2Phenotype.

Created: 11 Dec 2023, 6 p.m. | Last Modified: 11 Dec 2023, 6 p.m.

Panel Version: 4.119

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Combined oxidative phosphorylation deficiency 50, OMIM:619025

Publications

• 31039582

I don't know

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

Created: 4 Dec 2023, 1:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Combined oxidative phosphorylation deficiency 50

Publications

• 31039582