Whole mitochondrial genome screening in two families with hearing loss: detection of a novel mutation in the 12S rRNA gene

Sensorineural hearing loss has been described in association with different mitochondrial multisystemic syndromes, often characterized by an important neuromuscular involvement. Until now, mutations in mitochondrial DNA, especially in the 12S rRNA, the tRNASer(UCN) and the tRNALeu(UUR) genes, were i...

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Published inBioscience reports Vol. 30; no. 6; pp. 405 - 411
Main Authors Mkaouar-Rebai, Emna, Fendri-Kriaa, Nourhene, Louhichi, Nacim, Tlili, Abdelaziz, Triki, Chahnez, Ghorbel, Abdelmoneem, Masmoudi, Saber, Fakhfakh, Faiza
Format Journal Article
LanguageEnglish
Published England 01.12.2010
Subjects
Base Sequence
Conservation
Family
Female
Genetic Testing
Genome, Mitochondrial - genetics
Genomes
Hearing loss
Hearing Loss, Sensorineural - diagnosis
Hearing Loss, Sensorineural - genetics
Humans
Male
Mitochondria
Mitochondrial Diseases - diagnosis
Mitochondrial Diseases - genetics
Mitochondrial DNA
Molecular Sequence Data
Mutation
Nucleotides
Pedigree
Primates
RNA, Ribosomal - genetics
rRNA 12S
Sequence Analysis, DNA
Tunisia
Tunisia
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Summary:Sensorineural hearing loss has been described in association with different mitochondrial multisystemic syndromes, often characterized by an important neuromuscular involvement. Until now, mutations in mitochondrial DNA, especially in the 12S rRNA, the tRNASer(UCN) and the tRNALeu(UUR) genes, were implicated in syndromic or non-syndromic hearing loss either as a primary cause or as predisposing factors. In the present study, we performed a whole mitochondrial genome screening in two unrelated Tunisian families with inherited hearing loss. Results showed the presence of a novel mutation in the mitochondrial 12S rRNA gene in the two probands of these two families who belong to two different haplogroups: L3 and H6a1. The m.735A>G mutation affects a conserved nucleotide of the mitochondrial 12S rRNA gene in primates and other species and had a conservation index of 78.5% (11/14). We also detected known polymorphisms and sic novel mitochondrial variants. The present study confirmed that the mitochondrial 12S rRNA gene is a hot spot for mutations associated with hearing impairment.
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ISSN:0144-8463
1573-4935
DOI:10.1042/BSR20090120