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

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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; Kammoun, Thouraya; Alila-Fersi, Olfa; Aloulou, Hajer; Hachicha, Mongia; Fakhfakh, Faiza.

I: Biochemical and Biophysical Research Communications, Vol. 430, Nr. 2, 11.01.2013, s. 585-91.

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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T1 - 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

AU - Mkaouar-Rebai, Emna

AU - Chamkha, Imen

AU - Kammoun, Thouraya

AU - Alila-Fersi, Olfa

AU - Aloulou, Hajer

AU - Hachicha, Mongia

AU - Fakhfakh, Faiza

N1 - Copyright © 2012 Elsevier Inc. All rights reserved.

PY - 2013/1/11

Y1 - 2013/1/11

N2 - 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.

AB - 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.

KW - Adolescent

KW - Amino Acid Sequence

KW - Codon, Terminator

KW - Deaf-Blind Disorders

KW - Diabetes Mellitus

KW - Electron Transport Complex IV

KW - Female

KW - Hearing Loss, Sensorineural

KW - Humans

KW - Mitochondrial Diseases

KW - Molecular Sequence Data

KW - Mutation

KW - Protein Structure, Secondary

KW - RNA, Transfer, Ser

KW - Tunisia

U2 - 10.1016/j.bbrc.2012.11.109

DO - 10.1016/j.bbrc.2012.11.109

M3 - Article

VL - 430

SP - 585

EP - 591

JO - Biochemical and Biophysical Research Communications

T2 - Biochemical and Biophysical Research Communications

JF - Biochemical and Biophysical Research Communications

SN - 1090-2104

IS - 2

ER -