Advanced

A novel MT-CO2 m.8249G>A pathogenic variation and the MT-TW m.5521G>A mutation in patients with mitochondrial myopathy

Mkaouar-Rebai, Emna; Ben Mahmoud, Afif; Chamkha, Imen LU ; Chabchoub, Imen; Kammoun, Thouraya; Hachicha, Mongia and Fakhfakh, Faiza (2014) In Mitochondrial DNA 25(5). p.9-394
Abstract

Mitochondrial DNA (mtDNA) defects were known to be associated with a large spectrum of human diseases and patients might present wide range of clinical features with various combinations. Mutations in mitochondrial tRNAs, rRNAs and protein-coding genes or large-scale rearrangements have been implicated in several cytopathies. Mitochondrial myopathies, usually maternally inherited group of neuromuscular diseases caused by mitochondrial dysfunction occurring before the age of 20 years and often begin with exercise intolerance, muscle weakness and neurodevelopmental retardation. We studied the mtDNA in three Tunisian patients with mitochondrial myopathy. The mutational analysis screening revealed the presence of two mitochondrial... (More)

Mitochondrial DNA (mtDNA) defects were known to be associated with a large spectrum of human diseases and patients might present wide range of clinical features with various combinations. Mutations in mitochondrial tRNAs, rRNAs and protein-coding genes or large-scale rearrangements have been implicated in several cytopathies. Mitochondrial myopathies, usually maternally inherited group of neuromuscular diseases caused by mitochondrial dysfunction occurring before the age of 20 years and often begin with exercise intolerance, muscle weakness and neurodevelopmental retardation. We studied the mtDNA in three Tunisian patients with mitochondrial myopathy. The mutational analysis screening revealed the presence of two mitochondrial mutations: the m.5521G>A mutation in the D-stem region of the tRNA(Trp) gene which could lead to a disruption of the secondary structure of this tRNA and affect the tRNA-ribosome interaction with a consequent decrease in the rate of synthesis of mitochondrial proteins. The second mutation is the m.8249G>A (p.G222R) variation in the MT-CO2 gene which may affect the electrons transfer from cytochrome c to the bimetallic center of the catalytic subunit I.

(Less)
Please use this url to cite or link to this publication:
author
publishing date
type
Contribution to journal
publication status
published
keywords
Adolescent, Case-Control Studies, Child, Cyclooxygenase 2, DNA Mutational Analysis, DNA, Mitochondrial, Female, Humans, Male, Mitochondrial Myopathies, Point Mutation, RNA, Transfer, Trp, Tunisia
in
Mitochondrial DNA
volume
25
issue
5
pages
6 pages
publisher
Informa Healthcare
external identifiers
  • Scopus:84907056770
ISSN
1940-1744
DOI
10.3109/19401736.2013.803086
language
English
LU publication?
no
id
80e7ef93-59c6-4c7d-b8b0-aeb9d2a64c60
date added to LUP
2016-09-14 13:34:30
date last changed
2016-10-13 05:13:30
@misc{80e7ef93-59c6-4c7d-b8b0-aeb9d2a64c60,
  abstract     = {<p>Mitochondrial DNA (mtDNA) defects were known to be associated with a large spectrum of human diseases and patients might present wide range of clinical features with various combinations. Mutations in mitochondrial tRNAs, rRNAs and protein-coding genes or large-scale rearrangements have been implicated in several cytopathies. Mitochondrial myopathies, usually maternally inherited group of neuromuscular diseases caused by mitochondrial dysfunction occurring before the age of 20 years and often begin with exercise intolerance, muscle weakness and neurodevelopmental retardation. We studied the mtDNA in three Tunisian patients with mitochondrial myopathy. The mutational analysis screening revealed the presence of two mitochondrial mutations: the m.5521G&gt;A mutation in the D-stem region of the tRNA(Trp) gene which could lead to a disruption of the secondary structure of this tRNA and affect the tRNA-ribosome interaction with a consequent decrease in the rate of synthesis of mitochondrial proteins. The second mutation is the m.8249G&gt;A (p.G222R) variation in the MT-CO2 gene which may affect the electrons transfer from cytochrome c to the bimetallic center of the catalytic subunit I.</p>},
  author       = {Mkaouar-Rebai, Emna and Ben Mahmoud, Afif and Chamkha, Imen and Chabchoub, Imen and Kammoun, Thouraya and Hachicha, Mongia and Fakhfakh, Faiza},
  issn         = {1940-1744},
  keyword      = {Adolescent,Case-Control Studies,Child,Cyclooxygenase 2,DNA Mutational Analysis,DNA, Mitochondrial,Female,Humans,Male,Mitochondrial Myopathies,Point Mutation,RNA, Transfer, Trp,Tunisia},
  language     = {eng},
  number       = {5},
  pages        = {9--394},
  publisher    = {ARRAY(0x98b9af8)},
  series       = {Mitochondrial DNA},
  title        = {A novel MT-CO2 m.8249G>A pathogenic variation and the MT-TW m.5521G>A mutation in patients with mitochondrial myopathy},
  url          = {http://dx.doi.org/10.3109/19401736.2013.803086},
  volume       = {25},
  year         = {2014},
}