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

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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; Majdoub, Imen; Gargouri, Lamia; Mkaouar-Rebai, Emna; Tabebi, Mouna; Tlili, Abdelaziz; Keskes, Leila; Mahfoudh, Abdelmajid; Fakhfakh, Faiza.

In: Biochemical and Biophysical Research Communications, Vol. 484, No. 1, 26.02.2017, p. 71-78.

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Alila-Fersi, Olfa ; Chamkha, Imen ; Majdoub, Imen ; Gargouri, Lamia ; Mkaouar-Rebai, Emna ; Tabebi, Mouna ; Tlili, Abdelaziz ; Keskes, Leila ; Mahfoudh, Abdelmajid ; Fakhfakh, Faiza. / 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. In: Biochemical and Biophysical Research Communications. 2017 ; Vol. 484, No. 1. pp. 71-78.

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TY - JOUR

T1 - 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

T2 - A whole mitochondrial genome screening

AU - Alila-Fersi, Olfa

AU - Chamkha, Imen

AU - Majdoub, Imen

AU - Gargouri, Lamia

AU - Mkaouar-Rebai, Emna

AU - Tabebi, Mouna

AU - Tlili, Abdelaziz

AU - Keskes, Leila

AU - Mahfoudh, Abdelmajid

AU - Fakhfakh, Faiza

PY - 2017/2/26

Y1 - 2017/2/26

N2 - 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.

AB - 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.

KW - Dilated mitochondrial cardiomyopathy

KW - Hearing loss

KW - m.1555A>G

KW - m.8527A>G

KW - m.8605C>T

KW - m.8932C>T

UR - http://www.scopus.com/inward/record.url?scp=85009932250&partnerID=8YFLogxK

U2 - 10.1016/j.bbrc.2017.01.070

DO - 10.1016/j.bbrc.2017.01.070

M3 - Article

VL - 484

SP - 71

EP - 78

JO - Biochemical and Biophysical Research Communications

JF - Biochemical and Biophysical Research Communications

SN - 1090-2104

IS - 1

ER -