RMND1 gene encodes for RMND1, a protein belonging to the sif2 family of proteins that share the domain of unknown function 155 (DUF155 domain). RMND1 is a mitochondrial integral membrane protein that localizes to discrete foci in the mitochondrial network, juxtaposed to RNA granules where the primary mitochondrial transcripts are processed. So far, ~20 mutations in RMND1 have been reported, including missense, nonsense, splicing, and frameshift mutations. The most common is the c.713 A>G (pAsn238Ser) mutation, found in ~25/46 patients. There in no genotype/phenotype correlation. Mutations in RMND1 cause a defect in mitochondrial protein synthesis and respiratory complexes assembly, with consequent impairment of the mitochondrial respiratory chain enzymes. Combined defects of the respiratory chain enzymes, or isolated complex IV deficiency have been found in patients’ tissues and in RMND1 mutant and depleted cells.
RMND1