The mitochondrial ribosome is a protein complex that is essential for the translation of 13 mitochondrial proteins. The ribosome is encoded by the nuclear genome and is made up of two subunits: a smaller 28S subunit and a larger 39S subunit. The smaller 28S subunit is encoded by the MRPS35 gene. As part of the ribosome, the MRPS35 protein is thus involved in the biological processes of mitochondrial translational elongation, mitochondrial translational termination and DNA damage response.
The MRPS35 gene, located on the short arm of chromosome 12, spans a length of 45.5 kb of DNA. Its coding sequence is spread across 9 exons and it encodes a 36.8 kDa protein product composed of 323 amino acids. An additional 21 kDa isoform of the MRPS35 protein exists due to an alternatively spliced transcript variant. While the gene is found to be expressed in the nervous system and lung, overexpression is seen in the pancreas and adrenal gland.
Monies et al. (2017) investigated the genomic landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One patient, a 7-year-old male from a consanguineous family, presented with a failure to thrive, fine and gross motor delay, speech delay, intellectual disability, brain atrophy, abnormally shaped skull and limbs, and facial dysmorphia. He also had a family history of this phenotype. Whole exome sequencing helped identify a homozygous mutation (c.112+1->T) in exon 1 of the patient’s MRPS35 gene. This gene mutation was considered a candidate for pathogenicity as it was a novel variant located within the autozygome and was predicted to be deleterious; and proteins belonging to the same family as the MRPS35 protein have been linked to several mitochondrial multi-system disorders. The authors noted the need for independent confirmation of this association.
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