Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss

Mutations in mitochondrial DNA have been reported as associated with non-syndromic and aminoglycoside-induced hearing loss. In the present study, we have performed mutational screening of entire 12S rRNA gene in 250 unrelated patients with non-syndromic and aminoglycoside-induced hearing loss. Twent...

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Bibliographic Details
Published in:Biochemical and biophysical research communications 2010-04, Vol.395 (1), p.116-121
Main Authors: Rydzanicz, Małgorzata, Wróbel, Maciej, Pollak, Agnieszka, Gawęcki, Wojciec, Brauze, Damian, Kostrzewska-Poczekaj, Magdalena, Wojsyk-Banaszak, Irena, Lechowicz, Urszula, Mueller-Malesińska, Małgorzata, Ołdak, Monika, Płoski, Rafał, Skarżyński, Henryk, Szyfter, Krzysztof
Format: Article
Language:English
Subjects:
12S rRNA gene mutations
Adolescent
Adult
Aminoglycoside-induced hearing loss
Aminoglycosides - adverse effects
Anti-Bacterial Agents - adverse effects
Child
Child, Preschool
DNA Mutational Analysis
European Continental Ancestry Group
Female
Genes, Mitochondrial
Genetic Testing
Hearing Loss - chemically induced
Hearing Loss - genetics
Humans
Infant
Infant, Newborn
Male
Middle Aged
Mitochondrial DNA
Non-syndromic hearing loss
Pedigree
Poland
Polymorphism, Genetic
RNA, Ribosomal - genetics
Young Adult
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Summary:Mutations in mitochondrial DNA have been reported as associated with non-syndromic and aminoglycoside-induced hearing loss. In the present study, we have performed mutational screening of entire 12S rRNA gene in 250 unrelated patients with non-syndromic and aminoglycoside-induced hearing loss. Twenty-one different homoplasmic sequence variants were identified, including eight common polymorphisms, one deafness-associated mutation m.1555 A>G and three putatively pathogenic variants: m.669 T>C, m.827 A>G, m.961 delT+C(n)ins. The incidence of m.1555 A>G was estimated for 3.6% (9/250); however, where aminoglycoside exposure was taken as a risk factor, the frequency was 5.5% (7/128). Substitution m.669 T>C was identified only in patients with hearing impairment and episode of aminoglycoside exposure, which may suggest that such additional risk factors must appear to induce clinical phenotype. Moreover, two 12S rRNA sequence variants: m.988 G>A and m.1453 A>G, localized at conserved sites and affected RNA secondary structure, may be new candidates for non-syndromic and aminoglycoside-induced hearing loss associated mutations.
ISSN:0006-291X
1090-2104
DOI:10.1016/j.bbrc.2010.03.149