Maternally transmitted aminoglycoside-induced and non-syndromic hearing loss caused by the 1494C > T mutation in the mitochondrial 12S rRNA gene in two Chinese families

International Journal of Audiology

Volumn 52, Issue 2, 2013, Pages 98-103

  Wei, Qinjun ^a   Xu, Dan ^a,b   Chen, Zhibin ^b   Li, Haifeng ^b   Lu, Yajie ^a   Liu, Cheng ^b   Bu, Xingkuan ^b   Xing, Guangqian ^b   Cao, Xin ^a  

^a NANJING MEDICAL UNIVERSITY   (China)

^b THE FIRST AFFILIATED HOSPITAL OF NANJING MEDICAL UNIVERSITY   (China)

Author keywords

12S rRNA MT RNR1; Aminoglycoside ototoxicity; Haplogroups; Hearing loss; Mitochondrial DNA; Nuclear background

Indexed keywords

AMINOGLYCOSIDE; ANTIINFECTIVE AGENT; CARRIER PROTEIN; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; MTO1 PROTEIN, HUMAN; RIBOSOME RNA; RNA, RIBOSOMAL, 12S; TRANSFER RNA METHYLTRANSFERASE; TRMU PROTEIN, HUMAN;

ADULT; ARTICLE; ASIAN; AUDIOMETRY; AUDITORY STIMULATION; AUDITORY THRESHOLD; CHEMICALLY INDUCED DISORDER; CHILD; CHINA; DRUG EFFECT; ETHNOLOGY; FEMALE; GENETIC PREDISPOSITION; GENETICS; HAPLOTYPE; HEARING; HEARING IMPAIRMENT; HEREDITY; HUMAN; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; PENETRANCE; PRESCHOOL CHILD;

ACOUSTIC STIMULATION; ADULT; AMINOGLYCOSIDES; ANTI-BACTERIAL AGENTS; ASIAN CONTINENTAL ANCESTRY GROUP; AUDIOMETRY; AUDITORY THRESHOLD; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HEARING; HEARING LOSS; HEREDITY; HUMANS; MALE; MITOCHONDRIAL PROTEINS; MUTATION; PEDIGREE; PENETRANCE; RNA, RIBOSOMAL; TRNA METHYLTRANSFERASES;

EID: 84872172797     PISSN: 14992027     EISSN: 17088186     Source Type: Journal    
DOI: 10.3109/14992027.2012.743046     Document Type: Article

References (35)

1. Andrews R.M., Kubacka I., Chinnery P.F., Lightowlers R.N., Turbull D.M. et al. 1999. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet, 23, 147 (Pubitemid 29455385)
2. Bacino C., Prezant T.R., Bu X., Fournier P. & Fischel-Ghodsian N. 1995 Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness. Pharmacogenetics, 5, 165 - 172
3. Bibb M.J., Van Etten R.A., Wright C.T., Walberg M.W. & Clayton D.A. 1981. Sequence and gene organization of mouse mitochondrial DNA. Cell, 26, 167 - 180 (Pubitemid 12244496)
4. Casano R.A., Johnson D.F., Bykhovskaya Y., Torricelli F., Bigozzi M. et al. 1999. Inherited susceptibility to aminoglycoside totoxicity: Genetic heterogeneity and clinical implications. Am J Otolaryngol, 20, 151 - 156 (Pubitemid 29196560)
5. Chen J., Yang L., Yang A., Zhu Y., Zhao J. et al. 2007. Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees. Gene, 401, 4 - 11 (Pubitemid 47379508)
6. Dai D., Lu Y., Chen Z., Wei Q., Cao X. et al. 2008. Co-segregation of the T1095C with the A1555G mutation of the mitochondrial 12S rRNA gene in a patient with non-syndromic hearing loss. Biochem Biophys Res Commun, 377, 1152 - 1155
7. de Moraes V.C.S., Alexandrino F., Andrade P.B., Camara M.F. & Sartorato E.L. 2009. Study of modifi ers factors associated to mitochondrial mutations in individuals with hearing impairment. Biochem Biophys Res Commun, 381, 210 - 213
8. Estivill X., Govea N., Barcel ó E., Badenas C., Romero E., et al. 1998 Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycoside. Am J Hum Genet, 62, 27 - 35 (Pubitemid 28093831)
9. Fischel-Ghodsian N. 2005. Genetic factors in aminoglycoside toxicity. Pharmacogenomics, 6, 27 - 36 (Pubitemid 40220668)
10. Gadaleta G., Pepe G., De Candia G., Quagliariello C., Sbisa E. et al. 1989 The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: Cryptic signals revealed by comparative analysis between vertebrates. J Mol Evol, 28, 497 - 516 (Pubitemid 19156477)
11. Guan M.X. 2005. Prevalence of mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity. Volta Rev, 105, 211 - 227
12. Guan M.X., Yan Q., Li X., Bykhovskaya Y., Gallo-Teran J. et al. 2006. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. Am J Hum Genet, 79, 291 - 302 (Pubitemid 44141827)
13. Han D., Dai P., Zhu Q., Liu X., Huang D. et al. 2007. The mitochondrial tRNA(Ala) T 5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss. Biochem Biophys Res Commun, 357, 554 - 560 (Pubitemid 46603166)
14. Kong Q.P., Bandelt H.J., Sun C., Yao Y.G., Salas A. et al. 2006. Updating the East Asian mtDNA phylogeny: A prerequisite for the identifi cation of pathogenic mutations. Hum Mol Gene t, 15, 2076 - 2086 (Pubitemid 43923397)
15. Li C.X., Pan Q., Guo Y.G., Li Y., Gao H.F. et al. 2008. Construction of a multiplex allele-specifi c PCR-based universal array (ASPUA) and its application to hearing loss screening. Hum Mutat, 29, 306 - 314 (Pubitemid 351240604)
16. Li R., Xing G., Yan M., Cao X., Liu X.Z. et al. 2004. Cosegregation of C-insertion at position 961 with A1555G mutation of mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss. Am J Med Genet (A), 124, 113 - 117 (Pubitemid 38036582)
17. Li X., Li R., Lin X. & Guan M.X. 2002. Isolation and characterization of the putative nuclear modifi er gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12S rRNA A1555G Mutation. J Biol Chem, 277, 27256 - 27264 (Pubitemid 34951743)
18. Li Z., Li R., Chen J., Liao Z., Zhu Y. et al. 2005. Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss. Hum Genet, 117, 9 - 15 (Pubitemid 40778777)
19. Lu Y., Dai D., Chen Z., Cao X., Bu X. et al. 2011. Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China. J Biomed Res, 25, 309 - 318
20. Prezant T.R., Agapian J.V., Bohlman M.C., Bu X., Oztas S. et al. 1993. Mitochondrial ribosomal RNA mutation associated with both antibioticinduced and non-syndromic deafness. Nat Genet, 4, 289 - 294 (Pubitemid 23205179)
21. Rieder M.J., Taylor S.L., Tobe V.O. & Nickerson D.A. 1998. Automating the identifi cation of DNA variations using quality-based fl uorescence re-sequencing: Analysis of the human mitochondrial genome. Nucleic Acid Res, 26, 967 - 973 (Pubitemid 28291649)
22. Rodriguez-Ballesteros M., Olarte M., Aguirre L.A., Galan F., Galan R. et al. 2006. Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C- - T mutation in the mitochondrial 12S rRNA gene. J Med Genet, 43, e54
23. Roe A., Ma D.P., Wilson R.K. & Wong J.F. 1985. The complete nucleotide sequence of the Xenopus laevis mitochondrial genome. J Biol Chem, 260, 9759 - 9774 (Pubitemid 15013035)
24. Tang H.Y., Hutcheson E., Neill S., Drummond-Borg M., Speer M. et al. 2002. Genetic susceptibility to aminoglycoside ototoxicity: How many are at risk? Genet Med, 4, 336 - 345 (Pubitemid 44698547)
25. Tessa A., Giannotti A., Tieri L., Vilarinho L., Marotta G. et al. 2001. Maternally inherited deafness associated with a T1095C mutation in the mtDNA. Eur J Hum Genet, 9, 147 - 149 (Pubitemid 32156697)
26. Torroni A., Petrozzi M., D ' Urbano L., Sellitto D., Zeviani M. et al. 1997. Haplotype and phylogenetic analyses suggest that one European-specifi c mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet, 60, 1107 - 1121 (Pubitemid 27194095)
27. Wang Q., Li Q.Z., Han D., Zhao Y., Zhao L. et al. 2006. Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside- induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation. Biochem Biophys Res Commun, 340, 583 - 588 (Pubitemid 43021786)
28. Xing G., Chen Z. & Cao X. 2007. Mitochondrial rRNA and tRNA and hearing function. Cell Res, 17, 227 - 239 (Pubitemid 46438720)
29. Xing G., Chen Z., Wei Q., Tian H. & Zhou A. et al. 2006a. Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family. Biochem Biophys Res Commun, 344, 1253 - 1257
30. Xing G., Chen Z., Wei Q., Tian H., Zhou A. et al. 2006b. Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity. Biochem Biophys Res Commun, 346, 1131 - 1135 (Pubitemid 43946814)
31. Yuan H., Chen J., Liu X., Cheng J., Wang X. et al. 2007. Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss. Biochem Biophys Res Commun, 362, 94 - 100 (Pubitemid 47296298)
32. Zhao H., Li R., Wang Q., Yan Q., Deng J.H. et al. 2004a. Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am J Hum Genet, 74, 139 - 152 (Pubitemid 38085245)
33. Zhao H., Young W.Y., Yan Q., Li R., Cao, J., et al. 2005. Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss. Nucl Acids Res, 33, 1132 - 1139 (Pubitemid 41430533)
34. Zhao L., Young W.Y., Li R., Wang Q., Qian Y. et al. 2004b. Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation. Biochem iophys Res Commun, 325, 1503 - 1508 (Pubitemid 39535932)
35. Zhu Y., Li Q., Chen Z., Kun Y., Liu L. et al. 2009. Mitochondrial haplotype and phenotype of 13 Chinese families may suggest multi-original evolution of mitochondrial C1494T mutation. Mitochondrion, 9, 418 - 428