title: Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders.
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.
authors.affiliation: Département des Sciences de la Vie, Faculté des Sciences de Sfax, Université de Sfax, Tunisia. Electronic address: emna.mkaouar@gmail.com.
authors.forename: Emna
authors.initials: E
authors.lastname: Mkaouar-Rebai
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax, Tunisia.
authors.forename: Rahma
authors.initials: R
authors.lastname: Felhi
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax, Tunisia.
authors.forename: Mouna
authors.initials: M
authors.lastname: Tabebi
authors.affiliation: Département des Sciences de la Vie, Faculté des Sciences de Sfax, Université de Sfax, Tunisia.
authors.forename: Olfa
authors.initials: O
authors.lastname: Alila-Fersi
authors.affiliation: Département des Sciences de la Vie, Faculté des Sciences de Sfax, Université de Sfax, Tunisia.
authors.forename: Imen
authors.initials: I
authors.lastname: Chamkha
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax, Tunisia.
authors.forename: Marwa
authors.initials: M
authors.lastname: Maalej
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax, Tunisia.
authors.forename: Marwa
authors.initials: M
authors.lastname: Ammar
authors.affiliation: Service de pédiatrie, C.H.U. Hedi Chaker de Sfax, Tunisia.
authors.forename: Fatma
authors.initials: F
authors.lastname: Kammoun
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax, Tunisia.
authors.forename: Leila
authors.initials: L
authors.lastname: Keskes
authors.affiliation: Service de pédiatrie, C.H.U. Hedi Chaker de Sfax, Tunisia.
authors.forename: Mongia
authors.initials: M
authors.lastname: Hachicha
authors.affiliation: Département des Sciences de la Vie, Faculté des Sciences de Sfax, Université de Sfax, Tunisia. Electronic address: faiza.fakhfakh02@gmail.com.
authors.forename: Faiza
authors.initials: F
authors.lastname: Fakhfakh
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D045303:Cytochromes b / Q000737:chemistry / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D050259:Genes, Mitochondrial; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000235:genetics* / Q000473:pathology; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000473:pathology; D025261:Mitochondrial Proton-Translocating ATPases / Q000737:chemistry / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation
chemical_list: D004272:DNA, Mitochondrial; C501005:MT-ATP6 protein, human; D045303:Cytochromes b; D025261:Mitochondrial Proton-Translocating ATPases
keywords: MT-ATP6; Mitochondrial duplication; Mitochondrial mutations; m.14924T>C; m.9157G>A; mtDNA