Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

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

Annals of Clinical and Translational Neurology, cilt.12, sa.8, ss.1680-1688, 2025 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 12 Sayı: 8
  • Basım Tarihi: 2025
  • Doi Numarası: 10.1002/acn3.52141
  • Dergi Adı: Annals of Clinical and Translational Neurology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE, Directory of Open Access Journals
  • Sayfa Sayıları: ss.1680-1688
  • Akdeniz Üniversitesi Adresli: Evet

Özet

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.