Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

Abstract

Mitochondrial diseases are a heterogeneous group of disorders caused by the impairment of the mitochondrial oxidative phosphorylation system which have been associated with various mutations of the mitochondrial DNA (mtDNA) and nuclear gene mutations. The clinical phenotypes are very diverse and the spectrum is still expanding. As brain and muscle are highly dependent on OXPHOS, consequently, neurological disorders and myopathy are common features of mtDNA mutations. Mutations in mtDNA can be classified into three categories: large-scale rearrangements, point mutations in tRNA or rRNA genes and point mutations in protein coding genes. In the present report, we screened mitochondrial genes of complex I, III, IV and V in 2 patients with mitochondrial neuromuscular disorders. The results showed the presence the pathogenic heteroplasmic m.9157G>A variation (A211T) in the MT-ATP6 gene in the first patient. We also reported the first case of triplication of 9 bp in the mitochondrial NC7 region in Africa and Tunisia, in association with the novel m.14924T>C in the MT-CYB gene in the second patient with mitochondrial neuromuscular disorder.

Detaljer

Författare
  • Emna Mkaouar-Rebai
  • Rahma Felhi
  • Mouna Tabebi
  • Olfa Alila-Fersi
  • Imen Chamkha
  • Marwa Maalej
  • Marwa Ammar
  • Fatma Kammoun
  • Leila Keskes
  • Mongia Hachicha
  • Faiza Fakhfakh
Externa organisationer
  • University of Sfax
Forskningsområden

Nyckelord

Originalspråkengelska
Sidor (från-till)578-85
Antal sidor8
TidskriftBiochemical and Biophysical Research Communications
Volym473
Utgivningsnummer2
StatusPublished - 2016 apr 29
PublikationskategoriForskning
Peer review utfördJa
Externt publiceradJa