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Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings
Conclusions
Finding a large group with a homozygous nuclear pathogenic variant emphasises the importance of looking for possible founder effects. The absence of other widely described pathogenic nDNA variants in this cohort may be due to reduced prevalence or insufficient testing. As advances in therapeutics develop, it is critical to develop diagnostic platforms on the African subcontinent so that population-specific genetic variations can be identified.
Source: Journal of Clinical Pathology - December 15, 2021 Category: Pathology Authors: Meldau, S., Owen, E. P., Khan, K., Riordan, G. T. Tags: Original research Source Type: research
