Professor Georgii Bazykin has co-authored a paper “A broad comparative genomics approach to understanding the pathogenicity of Complex I mutations” that has been published in Scientific Reports journal. The study focuses on mutations in mitochondrial DNA (mtDNA) that affect Complex I of mitochondrial respiratory chain. Despite the mutations in mtDNA are recognized to trigger agroup of diseases , until recently the only known disease caused by mutations in Complex I was hereditary optic neuropathy. The researchers carried outthe most extensive investigation to date of the importance of haplogroup context in the pathogenicity of mtDNA mutations in Complex I. They searched for the proven human point mutations across more than 900 metazoans finding human disease-causing mutations and potential masking variants. Some variants were found in many species, including primates, and some were even the most prevalent amino acids across the dataset. The scientists also were able to find potential masking substitutions in other amino acid sites. They suggest that the masking variants might arise in humans, resulting in variability of mutation effect in Homo sapiens. Full text of the paper is available here.