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

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Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders. / Mkaouar-Rebai, Emna; Felhi, Rahma; Tabebi, Mouna; Alila-Fersi, Olfa; Chamkha, Imen; Maalej, Marwa; Ammar, Marwa; Kammoun, Fatma; Keskes, Leila; Hachicha, Mongia; Fakhfakh, Faiza.

In: Biochemical and Biophysical Research Communications, Vol. 473, No. 2, 29.04.2016, p. 578-85.

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Mkaouar-Rebai, E, Felhi, R, Tabebi, M, Alila-Fersi, O, Chamkha, I, Maalej, M, Ammar, M, Kammoun, F, Keskes, L, Hachicha, M & Fakhfakh, F 2016, 'Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders', Biochemical and Biophysical Research Communications, vol. 473, no. 2, pp. 578-85. https://doi.org/10.1016/j.bbrc.2016.03.126

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Mkaouar-Rebai, Emna ; Felhi, Rahma ; Tabebi, Mouna ; Alila-Fersi, Olfa ; Chamkha, Imen ; Maalej, Marwa ; Ammar, Marwa ; Kammoun, Fatma ; Keskes, Leila ; Hachicha, Mongia ; Fakhfakh, Faiza. / Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders. In: Biochemical and Biophysical Research Communications. 2016 ; Vol. 473, No. 2. pp. 578-85.

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TY - JOUR

T1 - Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders

AU - Mkaouar-Rebai, Emna

AU - Felhi, Rahma

AU - Tabebi, Mouna

AU - Alila-Fersi, Olfa

AU - Chamkha, Imen

AU - Maalej, Marwa

AU - Ammar, Marwa

AU - Kammoun, Fatma

AU - Keskes, Leila

AU - Hachicha, Mongia

AU - Fakhfakh, Faiza

N1 - Copyright © 2016 Elsevier Inc. All rights reserved.

PY - 2016/4/29

Y1 - 2016/4/29

N2 - 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.

AB - 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.

KW - Amino Acid Sequence

KW - Base Sequence

KW - Child

KW - Cytochromes b

KW - DNA, Mitochondrial

KW - Female

KW - Genes, Mitochondrial

KW - Humans

KW - Male

KW - Mitochondria

KW - Mitochondrial Diseases

KW - Mitochondrial Proton-Translocating ATPases

KW - Molecular Sequence Data

KW - Mutation

KW - Neuromuscular Diseases

KW - Point Mutation

U2 - 10.1016/j.bbrc.2016.03.126

DO - 10.1016/j.bbrc.2016.03.126

M3 - Article

VL - 473

SP - 578

EP - 585

JO - Biochemical and Biophysical Research Communications

JF - Biochemical and Biophysical Research Communications

SN - 1090-2104

IS - 2

ER -