Mitochondrial DNA variation and intervertebral disc degeneration: a genotypic analysis in a South African cohort.

ABSTRACT:

Background

Non-communicable diseases are multifactorial in that they can be caused by genetic factors, age, sex and poor lifestyle choices. They are estimated to account for 71% of deaths globally with 80% of these deaths occurring in low- and middle-income countries. This is particularly true for Intervertebral Disc Degeneration associated with mitochondrial dysfunction. Interestingly, mitochondrial dysfunction can arise from mutations in both the nuclear and the mitochondrial genomes. The present study, therefore, aimed to determine if there is an association between mitochondrial DNA mutations associated with mitochondrial dysfunction and disc degeneration in a South African cohort, and in addition, generate genetic data for understudied mutations in African populations.

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SUBMITTER: Collins M 

PROVIDER: S-EPMC11889028 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature