HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation.

AbstractBACKGROUND:
Variants of mitochondrial DNA (mtDNA) have been evaluated for their association with hearing loss. Although ethnic background affects the spectrum of mtDNA variants, systematic mutational analysis of mtDNA in Japanese patients with hearing loss has not been reported.
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.
AuthorsHideki Mutai, Hiroko Kouike, Eiko Teruya, Ikuko Takahashi-Kodomari, Hiroki Kakishima, Hidenobu Taiji, Shin-ichi Usami, Torayuki Okuyama, Tatsuo Matsunaga
JournalBMC medical genetics (BMC Med Genet) Vol. 12 Pg. 135 (Oct 12 2011) ISSN: 1471-2350 [Electronic] England
PMID21989059 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Connexins
  • DNA, Mitochondrial
  • GJB2 protein, human
  • Connexin 26
Topics
  • Chromatography, High Pressure Liquid
  • Connexin 26
  • Connexins
  • DNA, Mitochondrial (genetics)
  • Female
  • Hearing Loss (genetics)
  • Humans
  • Japan
  • Male
  • Middle Aged
  • Pedigree

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: