Abstract | BACKGROUND: METHODS: Using denaturing high-performance liquid chromatography combined with direct sequencing and cloning-sequencing, Japanese patients with prelingual (N = 54) or postlingual (N = 80) sensorineural hearing loss not having pathogenic mutations of m.1555A > G and m.3243A > G nor GJB2 were subjected to mutational analysis of mtDNA genes ( 12S rRNA, tRNALeu(UUR), tRNASer(UCN), tRNALys, tRNAHis, tRNASer(AGY), and tRNAGlu). RESULTS: We discovered 15 variants in 12S rRNA and one homoplasmic m.7501A > G variant in tRNASer(UCN); no variants were detected in the other genes. Two criteria, namely the low frequency in the controls and the high conservation among animals, selected the m.904C > T and the m.1105T > C variants in 12S rRNA as candidate pathogenic mutations. Alterations in the secondary structures of the two variant transcripts as well as that of m.7501A > G in tRNASer(UCN) were predicted. CONCLUSIONS: The m.904C > T variant was found to be a new candidate mutation associated with hearing loss. The m.1105T > C variant is unlikely to be pathogenic. The pathogenicity of the homoplasmic m.7501T > A variant awaits further study.
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Authors | Hideki Mutai, Hiroko Kouike, Eiko Teruya, Ikuko Takahashi-Kodomari, Hiroki Kakishima, Hidenobu Taiji, Shin-ichi Usami, Torayuki Okuyama, Tatsuo Matsunaga |
Journal | BMC medical genetics
(BMC Med Genet)
Vol. 12
Pg. 135
(Oct 12 2011)
ISSN: 1471-2350 [Electronic] England |
PMID | 21989059
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Connexins
- DNA, Mitochondrial
- GJB2 protein, human
- Connexin 26
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Topics |
- Chromatography, High Pressure Liquid
- Connexin 26
- Connexins
- DNA, Mitochondrial
(genetics)
- Female
- Hearing Loss
(genetics)
- Humans
- Japan
- Male
- Middle Aged
- Pedigree
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