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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

Chamkha, Imen LU ; Mkaouar-Rebai, Emna; Aloulou, Hajer; Chabchoub, Imen; Kifagi, Chamseddine LU ; Fendri-Kriaa, Nourhene; Kammoun, Thouraya; Hachicha, Mongia and Fakhfakh, Faiza (2011) In Biochemical and Biophysical Research Communications 404(1). p.10-504
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.

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author
publishing date
type
Contribution to journal
publication status
published
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
in
Biochemical and Biophysical Research Communications
volume
404
issue
1
pages
7 pages
publisher
Elsevier
external identifiers
  • Scopus:78650912368
ISSN
1090-2104
DOI
10.1016/j.bbrc.2010.12.012
language
English
LU publication?
no
id
429bd2a1-0e83-497e-a9e7-556a6c9568fc
date added to LUP
2016-09-14 13:41:35
date last changed
2016-10-13 05:13:30
@misc{429bd2a1-0e83-497e-a9e7-556a6c9568fc,
  abstract     = {<p>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&gt;G (Y30C) occurring in a highly conserved aminoacid of the ND1 gene and the m.4316A&gt;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.</p>},
  author       = {Chamkha, Imen and Mkaouar-Rebai, Emna and Aloulou, Hajer and Chabchoub, Imen and Kifagi, Chamseddine and Fendri-Kriaa, Nourhene and Kammoun, Thouraya and Hachicha, Mongia and Fakhfakh, Faiza},
  issn         = {1090-2104},
  keyword      = {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},
  language     = {eng},
  month        = {01},
  number       = {1},
  pages        = {10--504},
  publisher    = {ARRAY(0x9a89cd0)},
  series       = {Biochemical and Biophysical Research Communications},
  title        = {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},
  url          = {http://dx.doi.org/10.1016/j.bbrc.2010.12.012},
  volume       = {404},
  year         = {2011},
}