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
(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.
(Less)
- author
- Mkaouar-Rebai, Emna ; Chamkha, Imen LU ; Kammoun, Thouraya ; Alila-Fersi, Olfa ; Aloulou, Hajer ; Hachicha, Mongia and Fakhfakh, Faiza
- publishing date
- 2013-01-11
- 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
- pmid:23219819
- 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
- 2024-06-28 14:54:20
@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>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.</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}}, 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}}, 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}}, doi = {{10.1016/j.bbrc.2012.11.109}}, volume = {{430}}, year = {{2013}}, }