A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss

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Abstract

Mitochondria are essential for early cardiac development and impaired regulation of mitochondrial function was implicated in congenital heart diseases. We described a newborn girl with hypertrophic cardiomyopathy and profound hearing loss. The mtDNA mutational analysis revealed the presence of known polymorphisms associated to cardiomyopathy and/or hearing loss, and 2 novel heteroplasmic mutations: m.3395A>G (Y30C) occurring in a highly conserved aminoacid of the ND1 gene and the m.4316A>G located in the residue A54 of the tRNA(Ile) gene. These 2 novel variations were absent in 150 controls. All these variants may act synergistically and exert a cumulative negative effect on heart function to generate the cardiomyopathy.

Detaljer

Författare
  • Imen Chamkha
  • Emna Mkaouar-Rebai
  • Hajer Aloulou
  • Imen Chabchoub
  • Chamseddine Kifagi
  • Nourhene Fendri-Kriaa
  • Thouraya Kammoun
  • Mongia Hachicha
  • Faiza Fakhfakh
Externa organisationer
  • University of Sfax
Forskningsområden

Nyckelord

Originalspråkengelska
Sidor (från-till)504-10
Antal sidor7
TidskriftBiochemical and Biophysical Research Communications
Volym404
Utgivningsnummer1
StatusPublished - 2011 jan 7
PublikationskategoriForskning
Peer review utfördJa
Externt publiceradJa