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

Imen Chamkha, Emna Mkaouar-Rebai, Hajer Aloulou, Imen Chabchoub, Chamseddine Kifagi, Nourhene Fendri-Kriaa, Thouraya Kammoun, Mongia Hachicha, Faiza Fakhfakh

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)504-10
Number of pages7
JournalBiochemical and Biophysical Research Communications
Volume404
Issue number1
DOIs
Publication statusPublished - 2011 Jan 7
Externally publishedYes

Keywords

  • Amino Acid Sequence
  • Cardiomyopathy, Hypertrophic
  • DNA Mutational Analysis
  • DNA, Mitochondrial
  • Female
  • Hearing Loss, Sensorineural
  • Humans
  • Infant
  • Mitochondria
  • Molecular Sequence Data
  • Mutation
  • Mutation, Missense
  • NADH Dehydrogenase
  • Polymorphism, Genetic
  • Protein Structure, Secondary
  • RNA, Transfer, Ile

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