Mitochondria dysfunctional diseases among African population since the discovery of mitochondrial pathologies: a systematic review

Mitochondrial-related diseases affect people of all ages, sexes, and origins. While extensively documented in high-income countries, the prevalence, genetic spectrum, and phenotypic presentation of these conditions in African populations remain underexplored. This systematic review, following PRISMA guidelines, analyzed literature from 1988 to 2023 on mitochondrial diseases (MDs) among African population. Databases search (PubMed, Scopus) and manual screening (Google Scholar) yielded 27,749 records and 23 met the inclusion criteria. Sensorineural hearing loss, usually linked to mitochondrial DNA (mtDNA) A1555G mutation, was the most reported phenotype of MDs. Diagnostic strategies were predominantly polymerase chain reaction (PCR)-based assays. Funding was sparse, primarily from national agencies and international collaborations. The findings reveal a substantial gap in MD research across much of Africa, with significant underrepresentation of many regions. Expanding genetic testing capacity, improving epidemiological surveillance, and fostering collaborative research are critical to advancing diagnosis, management, and policy for MDs on the African continent.