Advanced

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

Mkaouar-Rebai, Emna; Felhi, Rahma; Tabebi, Mouna; Alila-Fersi, Olfa; Chamkha, Imen LU ; Maalej, Marwa; Ammar, Marwa; Kammoun, Fatma; Keskes, Leila and Hachicha, Mongia, et al. (2016) In Biochemical and Biophysical Research Communications 473(2). p.85-578
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... (More)

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.

(Less)
Please use this url to cite or link to this publication:
author
, et al. (More)
(Less)
publishing date
type
Contribution to journal
publication status
published
keywords
Amino Acid Sequence, Base Sequence, Child, Cytochromes b, DNA, Mitochondrial, Female, Genes, Mitochondrial, Humans, Male, Mitochondria, Mitochondrial Diseases, Mitochondrial Proton-Translocating ATPases, Molecular Sequence Data, Mutation, Neuromuscular Diseases, Point Mutation
in
Biochemical and Biophysical Research Communications
volume
473
issue
2
pages
8 pages
publisher
Elsevier
external identifiers
  • Scopus:84962074323
ISSN
1090-2104
DOI
10.1016/j.bbrc.2016.03.126
language
English
LU publication?
no
id
98a582b5-7c55-441b-8bd2-7588329e99d7
date added to LUP
2016-09-14 12:05:43
date last changed
2017-01-01 08:33:48
@article{98a582b5-7c55-441b-8bd2-7588329e99d7,
  abstract     = {<p>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&gt;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&gt;C in the MT-CYB gene in the second patient with mitochondrial neuromuscular disorder.</p>},
  author       = {Mkaouar-Rebai, Emna and Felhi, Rahma and Tabebi, Mouna and Alila-Fersi, Olfa and Chamkha, Imen and Maalej, Marwa and Ammar, Marwa and Kammoun, Fatma and Keskes, Leila and Hachicha, Mongia and Fakhfakh, Faiza},
  issn         = {1090-2104},
  keyword      = {Amino Acid Sequence,Base Sequence,Child,Cytochromes b,DNA, Mitochondrial,Female,Genes, Mitochondrial,Humans,Male,Mitochondria,Mitochondrial Diseases,Mitochondrial Proton-Translocating ATPases,Molecular Sequence Data,Mutation,Neuromuscular Diseases,Point Mutation},
  language     = {eng},
  month        = {04},
  number       = {2},
  pages        = {85--578},
  publisher    = {Elsevier},
  series       = {Biochemical and Biophysical Research Communications},
  title        = {Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders},
  url          = {http://dx.doi.org/10.1016/j.bbrc.2016.03.126},
  volume       = {473},
  year         = {2016},
}