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

Journal Article · Fri Apr 29 04:00:00 EDT 2016 · Biochemical and Biophysical Research Communications

DOI:https://doi.org/10.1016/J.BBRC.2016.03.126· OSTI ID:22596368

Mkaouar-Rebai, Emna ^[1]; Felhi, Rahma; Tabebi, Mouna ^[2]; Alila-Fersi, Olfa; Chamkha, Imen ^[1]; Maalej, Marwa; Ammar, Marwa ^[2]; Kammoun, Fatma ^[3]; Keskes, Leila ^[2]; Hachicha, Mongia ^[3]; Fakhfakh, Faiza ^[1]

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1. Département des Sciences de la Vie, Faculté des Sciences de Sfax, Université de Sfax (Tunisia)
2. Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax (Tunisia)
3. Service de pédiatrie, C.H.U. Hedi Chaker de Sfax (Tunisia)

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. - Highlights: • We reported 2 patients with mitochondrial neuromuscular disorders. • The heteroplasmic MT-ATP6 9157G>A variation was reported. • A triplication of 9 bp in the mitochondrial NC7 region was detected. • The m.14924T>C transition (S60P) in the MT-CYB gene was found.

• OSTI ID: 22596368
• Journal Information: Biochemical and Biophysical Research Communications, Journal Name: Biochemical and Biophysical Research Communications Journal Issue: 2 Vol. 473; ISSN 0006-291X; ISSN BBRCA9
• Country of Publication: United States
• Language: English

Related Subjects

60 APPLIED LIFE SCIENCES
BRAIN
DNA
GENE MUTATIONS
GENES
MITOCHONDRIA
MUSCLES
OXIDATION
PATIENTS
PHENOTYPE
PHOSPHORYLATION
PROTEINS