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Variants inmitochondrialtRNAGlu, tRNAArg, andtRNAThr may influencethe phenotypicmanifestation ofdeafness‐associated… Wie‐Yen YoungLidong ZhaoYaping Qian2006 год

Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness‐associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss
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Аннотация: Abstract We report here on the clinical, genetic, and molecular characterization of three Han Chinese pedigrees with aminoglycoside‐induced and nonsyndromic hearing loss. Clinical evaluation revealed the variable phenotype of hearing loss including severity, age‐at‐onset, audiometric configuration in these subjects. Penetrances of hearing loss in BJ107, BJ108, and BJ109 pedigrees are 35%, 63%, and 67%, respectively. Mutational analysis of the complete mitochondrial genomes in these pedigrees showed the identical homoplasmic A1555G mutation and distinct sets of mitochondrial DNA (mtDNA) variants belonging to haplogroups N, F, and M, respectively. Of these variants, the A14693G mutation in the tRNA Glu , the T15908C mutation in the tRNA Thr , and the T10454C mutation in the tRNA Arg are of special interest as these mutations occur at positions which are highly evolutionarily conserved nucleotides of corresponding tRNAs. These homoplasmic mtDNA mutations were absent among 156 unrelated Chinese controls. The A14693G and T10454C mutations occur at the highly conserved bases of the TψC‐loop of tRNA Glu and tRNA Arg , respectively. Furthermore, the T15908C mutation in the tRNA Thr disrupts a highly conserved A‐U base‐pairing at the D‐stem of this tRNA. The alteration of structure of these tRNAs by these mtDNA mutations may lead to a failure in tRNA metabolism, thereby causing impairment of mitochondrial translation. Thus, mitochondrial dysfunctions, caused by the A1555G mutation, would be worsened by these mtDNA mutations. Therefore, these mtDNA mutations may have a potential modifier role in increasing the penetrance and expressivity of the deafness‐associated 12S rRNA A1555G mutation in those Chinese pedigrees. © 2006 Wiley‐Liss, Inc.
Год издания: 2006
Авторы: Wie‐Yen Young, Lidong Zhao, Yaping Qian, Ronghua Li, Jing Chen, Huijun Yuan, Pu Dai, Suoqiang Zhai, Dongyi Han, Min‐Xin Guan
Издательство: Wiley
Источник: American Journal of Medical Genetics Part A
Ключевые слова: Mitochondrial Function and Pathology, RNA and protein synthesis mechanisms, Genomics and Phylogenetic Studies
Другие ссылки: American Journal of Medical Genetics Part A (PDF)
American Journal of Medical Genetics Part A (HTML)
PubMed (HTML)