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

Biochem Biophys Res Commun. 2011 Jan 7;404(1):504-10. doi: 10.1016/j.bbrc.2010.12.012. Epub 2010 Dec 6.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

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


  • DNA, Mitochondrial
  • RNA, Transfer, Ile
  • NADH Dehydrogenase
  • NADH dehydrogenase subunit 1, human