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

Research output: Contribution to journalArticle


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.


  • Imen Chamkha
  • Emna Mkaouar-Rebai
  • Hajer Aloulou
  • Imen Chabchoub
  • Chamseddine Kifagi
  • Nourhene Fendri-Kriaa
  • Thouraya Kammoun
  • Mongia Hachicha
  • Faiza Fakhfakh
External organisations
  • University of Sfax
Research areas and 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
Original languageEnglish
Pages (from-to)504-10
Number of pages7
JournalBiochemical and Biophysical Research Communications
Issue number1
Publication statusPublished - 2011 Jan 7
Publication categoryResearch
Externally publishedYes