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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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 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.

Detaljer

Författare
  • Olfa Alila-Fersi
  • Imen Chamkha
  • Imen Majdoub
  • Lamia Gargouri
  • Emna Mkaouar-Rebai
  • Mouna Tabebi
  • Abdelaziz Tlili
  • Leila Keskes
  • Abdelmajid Mahfoudh
  • Faiza Fakhfakh
Enheter & grupper
Externa organisationer
  • University of Sfax
  • University of Sharjah
  • Hôpital Hédi Chaker
Forskningsområden

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Cell- och molekylärbiologi
  • Medicinsk genetik

Nyckelord

Originalspråkengelska
Sidor (från-till)71-78
Antal sidor8
TidskriftBiochemical and Biophysical Research Communications
Volym484
Utgivningsnummer1
StatusPublished - 2017 feb 26
PublikationskategoriForskning
Peer review utfördJa