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A novel MT-CO1 m.6498C>A variation associated with the m.7444G>A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes in a patient with hearing impairment, diabetes and congenital visual loss

Mkaouar-Rebai, Emna; Chamkha, Imen LU ; Kammoun, Thouraya; Alila-Fersi, Olfa; Aloulou, Hajer; Hachicha, Mongia and Fakhfakh, Faiza (2013) In Biochemical and Biophysical Research Communications 430(2). p.91-585
Abstract

Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. Sensorineural hearing loss (SNHL) has been described in association to different mitochondrial multisystem syndromes, often involving the central nervous system, neuromuscular, or endocrine organs. In this study, we described a Tunisian young girl with hearing impairment, congenital visual loss and maternally inherited diabetes. No mutation was found in the mitochondrial tRNA(Leu(UUR)) and the 12S rRNA genes. However, we detected the m.7444G>A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes. This mutation eliminates the termination codon of the MT-CO1 gene and extends the COI... (More)

Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. Sensorineural hearing loss (SNHL) has been described in association to different mitochondrial multisystem syndromes, often involving the central nervous system, neuromuscular, or endocrine organs. In this study, we described a Tunisian young girl with hearing impairment, congenital visual loss and maternally inherited diabetes. No mutation was found in the mitochondrial tRNA(Leu(UUR)) and the 12S rRNA genes. However, we detected the m.7444G>A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes. This mutation eliminates the termination codon of the MT-CO1 gene and extends the COI polypeptide by three amino acids (Lys-Gln-Lys) to the C-terminal. The whole mitochondrial genome screening revealed the presence of a novel mutation m.6498C>A (L199I) in the mitochondrial DNA-encoded subunit I of the cytochrome c oxidase (COX). This "probably damaging" transversion affects a highly conserved domain and it was absent in 200 Tunisian controls. The studied patient was classified under the haplogroup H2a.

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author
publishing date
type
Contribution to journal
publication status
published
keywords
Adolescent, Amino Acid Sequence, Codon, Terminator, Deaf-Blind Disorders, Diabetes Mellitus, Electron Transport Complex IV, Female, Hearing Loss, Sensorineural, Humans, Mitochondrial Diseases, Molecular Sequence Data, Mutation, Protein Structure, Secondary, RNA, Transfer, Ser, Tunisia
in
Biochemical and Biophysical Research Communications
volume
430
issue
2
pages
7 pages
publisher
Elsevier
external identifiers
  • Scopus:84872363113
ISSN
1090-2104
DOI
10.1016/j.bbrc.2012.11.109
language
English
LU publication?
no
id
6976e4d5-e08b-44eb-bb63-7915fb0a0df7
date added to LUP
2016-09-14 13:37:00
date last changed
2017-01-15 04:41:15
@article{6976e4d5-e08b-44eb-bb63-7915fb0a0df7,
  abstract     = {<p>Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. Sensorineural hearing loss (SNHL) has been described in association to different mitochondrial multisystem syndromes, often involving the central nervous system, neuromuscular, or endocrine organs. In this study, we described a Tunisian young girl with hearing impairment, congenital visual loss and maternally inherited diabetes. No mutation was found in the mitochondrial tRNA(Leu(UUR)) and the 12S rRNA genes. However, we detected the m.7444G&gt;A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes. This mutation eliminates the termination codon of the MT-CO1 gene and extends the COI polypeptide by three amino acids (Lys-Gln-Lys) to the C-terminal. The whole mitochondrial genome screening revealed the presence of a novel mutation m.6498C&gt;A (L199I) in the mitochondrial DNA-encoded subunit I of the cytochrome c oxidase (COX). This "probably damaging" transversion affects a highly conserved domain and it was absent in 200 Tunisian controls. The studied patient was classified under the haplogroup H2a.</p>},
  author       = {Mkaouar-Rebai, Emna and Chamkha, Imen and Kammoun, Thouraya and Alila-Fersi, Olfa and Aloulou, Hajer and Hachicha, Mongia and Fakhfakh, Faiza},
  issn         = {1090-2104},
  keyword      = {Adolescent,Amino Acid Sequence,Codon, Terminator,Deaf-Blind Disorders,Diabetes Mellitus,Electron Transport Complex IV,Female,Hearing Loss, Sensorineural,Humans,Mitochondrial Diseases,Molecular Sequence Data,Mutation,Protein Structure, Secondary,RNA, Transfer, Ser,Tunisia},
  language     = {eng},
  month        = {01},
  number       = {2},
  pages        = {91--585},
  publisher    = {Elsevier},
  series       = {Biochemical and Biophysical Research Communications},
  title        = {A novel MT-CO1 m.6498C>A variation associated with the m.7444G>A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes in a patient with hearing impairment, diabetes and congenital visual loss},
  url          = {http://dx.doi.org/10.1016/j.bbrc.2012.11.109},
  volume       = {430},
  year         = {2013},
}