Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Gao F., Schon K. R., Vandrovcova J., Köken Ö. Y., Raga S., Naidu K., ...More

Annals of Clinical and Translational Neurology, vol.12, no.8, pp.1680-1688, 2025 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 12 Issue: 8
  • Publication Date: 2025
  • Doi Number: 10.1002/acn3.52141
  • Journal Name: Annals of Clinical and Translational Neurology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE, Directory of Open Access Journals
  • Page Numbers: pp.1680-1688
  • Dokuz Eylül University Affiliated: Yes

Abstract

Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole-exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite diagnoses, two possible diagnoses and eight secondary findings. Surprisingly, common pathogenic mtDNA variants found in people of European ancestry were very rare. Whole-exome or -genome sequencing from undiagnosed patients with neuromuscular symptoms should be re-analysed for mtDNA variants, but the landscape of pathogenic mtDNA variants differs around the world.