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Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss : A whole mitochondrial genome screening

Alila-Fersi, Olfa; Chamkha, Imen LU ; Majdoub, Imen; Gargouri, Lamia; Mkaouar-Rebai, Emna; Tabebi, Mouna; Tlili, Abdelaziz; Keskes, Leila; Mahfoudh, Abdelmajid and Fakhfakh, Faiza (2017) In Biochemical and Biophysical Research Communications 484(1). p.71-78
Abstract

Mitochondrial disease refers to a heterogeneous group of disorders resulting in defective cellular energy production due to dysfunction of the mitochondrial respiratory chain, which is responsible for the generation of most cellular energy. Because cardiac muscles are one of the high energy demanding tissues, mitochondrial cardiomyopathies is one of the most frequent mitochondria disorders. Mitochondrial cardiomyopathy has been associated with several point mutations of mtDNA in both genes encoded mitochondrial proteins and mitochondrial tRNA and rRNA. We reported here the first description of mutations in MT-ATP6 gene in two patients with clinical features of dilated mitochondrial cardiomyopathy. The mutational analysis of the whole... (More)

Mitochondrial disease refers to a heterogeneous group of disorders resulting in defective cellular energy production due to dysfunction of the mitochondrial respiratory chain, which is responsible for the generation of most cellular energy. Because cardiac muscles are one of the high energy demanding tissues, mitochondrial cardiomyopathies is one of the most frequent mitochondria disorders. Mitochondrial cardiomyopathy has been associated with several point mutations of mtDNA in both genes encoded mitochondrial proteins and mitochondrial tRNA and rRNA. We reported here the first description of mutations in MT-ATP6 gene in two patients with clinical features of dilated mitochondrial cardiomyopathy. The mutational analysis of the whole mitochondrial DNA revealed the presence of m.1555A>G mutation in MT-RNR1 gene associated to the m.8527A>G (p.M>V) and the m.8392C>T (p.136P>S) variations in the mitochondrial MT-ATP6 gene in patient1 and his family members with variable phenotype including hearing impairment. The second patient with isolated mitochondrial cardiomyopathy presented the m.8605C>T (p.27P>S) mutation in the MT-ATP6 gene. The three mutations p.M1V, p.P27S and p.P136S detected in MT-ATP6 affected well conserved residues of the mitochondrial protein ATPase 6. In addition, the substitution of proline residue at position 27 and 136 effect hydrophobicity and structure flexibility conformation of the protein.

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organization
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type
Contribution to journal
publication status
published
subject
keywords
Dilated mitochondrial cardiomyopathy, Hearing loss, m.1555A>G, m.8527A>G, m.8605C>T, m.8932C>T
in
Biochemical and Biophysical Research Communications
volume
484
issue
1
pages
8 pages
publisher
Elsevier
external identifiers
  • scopus:85009932250
  • wos:000394410500012
ISSN
0006-291X
DOI
10.1016/j.bbrc.2017.01.070
language
English
LU publication?
yes
id
0cd7a95a-4a46-41ff-b402-45439a4a4f95
date added to LUP
2017-02-14 09:29:18
date last changed
2018-01-07 11:49:33
@article{0cd7a95a-4a46-41ff-b402-45439a4a4f95,
  abstract     = {<p>Mitochondrial disease refers to a heterogeneous group of disorders resulting in defective cellular energy production due to dysfunction of the mitochondrial respiratory chain, which is responsible for the generation of most cellular energy. Because cardiac muscles are one of the high energy demanding tissues, mitochondrial cardiomyopathies is one of the most frequent mitochondria disorders. Mitochondrial cardiomyopathy has been associated with several point mutations of mtDNA in both genes encoded mitochondrial proteins and mitochondrial tRNA and rRNA. We reported here the first description of mutations in MT-ATP6 gene in two patients with clinical features of dilated mitochondrial cardiomyopathy. The mutational analysis of the whole mitochondrial DNA revealed the presence of m.1555A&gt;G mutation in MT-RNR1 gene associated to the m.8527A&gt;G (p.M&gt;V) and the m.8392C&gt;T (p.136P&gt;S) variations in the mitochondrial MT-ATP6 gene in patient1 and his family members with variable phenotype including hearing impairment. The second patient with isolated mitochondrial cardiomyopathy presented the m.8605C&gt;T (p.27P&gt;S) mutation in the MT-ATP6 gene. The three mutations p.M1V, p.P27S and p.P136S detected in MT-ATP6 affected well conserved residues of the mitochondrial protein ATPase 6. In addition, the substitution of proline residue at position 27 and 136 effect hydrophobicity and structure flexibility conformation of the protein.</p>},
  author       = {Alila-Fersi, Olfa and Chamkha, Imen and Majdoub, Imen and Gargouri, Lamia and Mkaouar-Rebai, Emna and Tabebi, Mouna and Tlili, Abdelaziz and Keskes, Leila and Mahfoudh, Abdelmajid and Fakhfakh, Faiza},
  issn         = {0006-291X},
  keyword      = {Dilated mitochondrial cardiomyopathy,Hearing loss,m.1555A>G,m.8527A>G,m.8605C>T,m.8932C>T},
  language     = {eng},
  month        = {02},
  number       = {1},
  pages        = {71--78},
  publisher    = {Elsevier},
  series       = {Biochemical and Biophysical Research Communications},
  title        = {Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss : A whole mitochondrial genome screening},
  url          = {http://dx.doi.org/10.1016/j.bbrc.2017.01.070},
  volume       = {484},
  year         = {2017},
}