Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss

Mitochondrion

Volumn 10, Issue 4, 2010, Pages 380-390

  Lu, Jianxin ^a   Li, Zhiyuan ^a   Zhu, Yi ^a   Yang, Aifen ^a   Li, Ronghua ^b   Zheng, Jing ^a   Cai, Qin ^a   Peng, Guanghua ^a   Zheng, Wuwei ^a   Tang, Xiaowen ^a   Chen, Bobei ^a   Chen, Jianfu ^a   Liao, Zhisu ^a   Yang, Li ^b   Li, Yongyan ^a   You, Junyan ^a   Ding, Yu ^a   Yu, Hong ^a   Wang, Jindan ^a   Sun, Dongmei ^a   Zhao, Jianyue ^a   Xue, Ling ^a   Wang, Jiying ^a   Guan, Min Xin ^a,b,c   more..

^a WENZHOU MEDICAL UNIVERSITY   (China)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^c UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

12S rRNA; Aminoglycosides; Chinese; Hearing loss; Mitochondrial; Variants

Indexed keywords

ADENINE; AMINOGLYCOSIDE; CONNEXIN 26; GENOMIC DNA; GENTAMICIN; GUANINE; KANAMYCIN; PROTEIN TRMU; RNA 12S; STREPTOMYCIN; TRANSFER RNA METHYLTRANSFERASE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CHILD; CHINESE; CONTROLLED STUDY; DISEASE SEVERITY; DISTORTION PRODUCT OTOACOUSTIC EMISSION; DNA SEQUENCE; FEMALE; GENETIC PREDISPOSITION; HAPLOTYPE; HEARING LOSS; HETEROZYGOTE; HUMAN; INFECTION; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; OTOTOXICITY; PERCEPTION DEAFNESS; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; PURE TONE AUDIOMETRY; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; AGE FACTORS; AMINOGLYCOSIDES; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; FEMALE; GENE FREQUENCY; GENOTYPE; HEARING LOSS; HUMANS; INFANT; MALE; POINT MUTATION; RNA; RNA, RIBOSOMAL; SEVERITY OF ILLNESS INDEX;

EID: 77952821177     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2010.01.007     Document Type: Article

References (57)

1. Abe S., Kelley P.M., Kimberling W.J., Usami S.I. Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A→G mitochondrial mutation. Am. J. Med. Genet. 2001, 103:334-338.
2. Andrews R.M., Kubacka I., Chinnery P.F., Lightowlers R.N., Turnbull D.M., Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat. Genet. 1999, 23:147.
3. Bacino C., Prezant T.R., Bu X., Fournier P., Fischel-Ghodsian N. Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness. Pharmacogenetics 1995, 5:165-172.
4. Brandon M.C., Lott M.T., Nguyen K.C., Spolim S., Navathe S.B., Baldi P., Wallace D.C. MITOMAP: a human mitochondrial genome database - 2004 update. Nucleic Acids Res. 2005, 33:D611-613.
5. Bykhovskaya Y., Shohat M., Ehrenman K., Johnson D., Hamon M., Cantor R.M., Aouizerat B., Bu X., Rotter J.I., Jaber L., Fischel-Ghodsian N. Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation. Am. J. Med. Genet. 1998, 77:421-426.
6. Casano R.A., Johnson D.F., Bykhovskaya Y., Torricelli F., Bigozzi M., Fischel-Ghodsian N. Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications. Am. J. Otolaryngol. 1999, 20:151-156.
7. Chen J., Yang L., Yang A., Zhu Y., Zhao J., Sun D., Tao Z., Tang X., Wang J., Wang X., Tsushima A., Lan J., Li W., Wu F., Yuan Q., Ji J., Feng J., Wu C., Liao Z., Li Z., Greinwald J.H., Lu J., Guan M.X. Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees. Gene 2007, 401:4-11.
8. Thr G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees. Am. J. Med. Genet. 2008, 146A:1248-1258.
9. Dai P., Liu X., Han D., Qian Y., Huang D., Yuan H., Li W., Yu F., Zhang R., Lin H., He Y., Yu Y., Sun Q., Qin H., Li R., Zhang X., Kang D., Cao J., Young W.Y., Guan M.X. Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness. Biochem. Biophys. Res. Commun. 2006, 340:194-199.
10. De Rijk P., De Wachter R. RnaViz, a program for the visualisation of RNA secondary structure. Nucleic Acids Res. 1997, 25:4679-4684.
11. del Castillo F.J., Rodriguez-Ballesteros M., Martin Y., Arellano B., Gallo-Teran J., Morales-Angulo C., Ramirez-Camacho R., Cruz Tapia M., Solanellas J., Martinez-Conde A., Villamar M., Moreno-Pelayo M.A., Moreno F., del Castillo I. Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. J. Med. Genet. 2003, 40:632-636.
12. Estivill X., Govea N., Barcelo A., Perello E., Badenas C., Romero E., Moral L., Scozzari R., D'Urbano L., Zeviani M., Torroni A. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides. Am. J. Hum. Genet. 1998, 62:27-35.
13. Fischel-Ghodsian N. Genetic factors in aminoglycoside toxicity. Pharmacogenomics 2005, 6:27-36.
14. Fischel-Ghodsian N., Prezant T.R., Bu X., Oztas S. Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity. Am. J. Otolaryngol. 1993, 4:399-403.
15. Guan M.X. Prevalence of mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity. Volta Rev. 2005, 105:211-237.
16. Guan M.X., Fischel-Ghodsian N., Attardi G. Biochemical evidence for nuclear gene involvement in phenotype of nonsyndromic deafness associated with mitochondrial 12S rRNA mutation. Hum. Mol. Genet. 1996, 5:963-971.
17. Guan M.X., Fischel-Ghodsian N., Attardi G. A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. Hum. Mol. Genet. 2000, 9:1787-1793.
18. Guan M.X., Fischel-Ghodsian N., Attardi G. Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation. Hum. Mol. Genet. 2001, 10:573-580.
19. Guan M.X., Yan Q., Li X., Bykhovskaya Y., Gallo-Teran J., Hajek P., Umeda N., Zhao H., Garrido G., Mengesha E., Suzuki T., del Castillo I., Peters J.L., Li R., Qian Y., Wang X., Ballana E., Shohat M., Lu J., Estivill X., Watanabe K., Fischel-Ghodsian N. 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. 2006, 79:291-302.
20. Hamasaki K., Rando R.R. Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism, which causes aminoglycoside-induced deafness. Biochemistry 1997, 36:12323-12328.
21. Ala T5628C 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. 2007, 357:554-560.
22. Hutchin T., Haworth I., Higashi K., Fischel-Ghodsian N., Stoneking M., Saha N., Arnos C., Cortopassi G. A molecular basis for human hypersensitivity to aminoglycoside antibiotics. Nuclear Acids Res. 1993, 21:4174-4179.
23. Jacobs H.T., Hutchin T.P., Käppi T., Gillies G., Minkkinen K., Walker J., Thompson K., Rovio A.T., Carella M., Melchionda S., Zelante L., Gasparini P., Pyykkö I., Shah Z.H., Zeviani M., Mueller R.F. Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur. J. Hum. Genet. 2005, 13:26-33.
24. Li R., Xing G., Yan M., Cao X., Liu X.Z., Bu X., Guan M.X. 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. 2004, 124A:113-117.
25. Ser(UCN) genes in paediatric subjects with nonsyndromic hearing loss. J. Med. Genet. 2004, 41:615-620.
26. Li Z., Li R., Chen J., Liao Z., Zhu Y., Qian Y., Xiong S., Heman-Ackah S., Wu J., Choo D.I., Guan M.X. Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside induced and non-syndromic hearing loss. Hum. Genet. 2005, 117:9-15.
27. Lu J., Qian Y., Li Z., Yang A., Zhu Y., Li R., Yang L., Tang X., Chen B., Ding Y., Li Y., You J., Zheng J., Tao Z., Zhao F., Wang J., Sun D., Zhao J., Meng Y., Guan M.X. Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation. Mitochondrion 2010, 10:69-81.
28. Malik S.G., Pieter N., Sudoyo H., Kadir A., Marzuki S. Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island southeast Asia. J. Hum. Genet. 2003, 48:480-483.
29. Matthijs G., Claes S., Longo-Bbenza B., Cassiman J.J. Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree. Eur. J. Hum. Genet. 1996, 4:46-51.
30. Mehl A.L., Thomson V. The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening. Pediatrics 2002, 109:E7.
31. Morton N.E. Genetic epidemiology of hearing impairment. Ann. NY Acad. Sci. 1991, 630:16-31.
32. Morton C.C. Genetics, genomics and gene discovery in audiotory system. Hum. Mol. Genet. 2002, 11:1229-1240.
33. Neefs J.M., Van de Peer Y., De Rijik P., Goris A., De Wachter R. Compilation of small ribosomal subunit RNA sequences. Nucleic Acids Res. 1991, 19(Suppl.):1987-2018.
34. Pandya A., Xia X., Radnaabazar J., Batsuuri J., Dangaansuren B., Fischel-Ghodsian N., Nance W.E. Mutation in the mitochondrial 12S ribosomal-RNA gene in 2 families from Mongolia with matrilineal aminoglycoside ototoxicity. J. Med. Genet. 1997, 34:169-172.
35. Prezant T.R., Agapian J.V., Bohlman M.C., Bu X., Oztas S., Qiu W.Q., Arnos K.S., Cortopassi G.A., Jaber L., Rotter J.I., Shohat M., Fischel-Ghodsian N. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat. Genet. 1993, 4:289-294.
36. Qian Y., Guan M.X. Interaction of aminoglycosides with human mitochondrial 12S ribosomal RNA carrying the deafness-associated mutation. Antimicrob. Agents Chemother. 2009, 53:4612-4618.
37. Rieder M.J., Taylor S.L., Tobe V.O., Nickerson D.A. Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. Nucleic Acids Res. 1998, 26:967-973.
38. Rodriguez-Ballesteros M., Olarte M., Aguirre L.A., Galan F., Galan R., Vallejo L.A., Navas C., Villamar M., Moreno-Pelayo M.A., Moreno F., del Castillo I. 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. 2006, 43:e54.
39. Ruiz-Pesini E., Wallace D.C. Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA. Hum. Mutat. 2006, 27:1072-1081.
40. Springer M.S., Douzery E. Secondary structure and patterns of evolution among mammalian mitochondrial 12S rRNA molecules. J. Mol. Evol. 1996, 143:357-373.
41. Tanaka M., Cabrera V.M., González A.M., Larruga J.M., Takeyasu T., Fuku N., Guo L.J., Hirose R., Fujita Y., Kurata M., Shinoda K., Umetsu K., Yamada Y., Oshida Y., Sato Y., Hattori N., Mizuno Y., Arai Y., Hirose N., Ohta S., Ogawa O., Tanaka Y., Kawamori R., Shamoto-Nagai M., Maruyama W., Shimokata H., Suzuki R., Shimodaira H. Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genome Res. 2004, 14:1832-1850.
42. Tang X., Yang L., Zhu Y., Liao Z., Wang J., Qian Y., Tao Z., Hu L., Wu G., Lan J., Wang X., Ji J., Wu J., Ji Y., Feng J., Chen J., Li Z., Zhang X., Lu J., Guan M.X. Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation. Gene 2007, 393:11-19.
43. Tessa A., Giannotti A., Tieri L., Vilarinho L., Marotta G., Santorelli F.M. Maternally inherited deafness associated with a T1095C mutation in the mDNA. Eur. J. Hum. Genet. 2001, 9:147-149.
44. Thyagarajan D., Bressman S., Bruno C., Przedborski S., Shanske S., Lynch Y., Fahn S., DiMauro S. A novel mitochondrial 12SrRNA point mutation in Parkinsonism, deafness, and neuropathy. Ann. Neurol. 2000, 48:730-736.
45. Usami S.I., Abe S., Kasai M., Shinkawa H., Moeller B., Kenyon J.B., Kimberling W.J. Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation. Laryngoscope 1997, 107:483-490.
46. Usami S.I., Abe S., Akita J., Namba A., Shinkawa H., Ishii M., Iwasaki S., Hoshino T., Ito J., Doi K., Kubo T., Nakagawa T., Komiyama S., Tono T., Komune S. Prevalence of mitochondrial gene mutations among hearing impaired patients. J. Med. Genet. 2000, 37:38-40.
47. Wang Q., Li R., Zhao H., Peters J.L., Liu Q., Yang L., Han D., Greinwald J.H., Young W.Y., Guan M.X. Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated mitochondrial 12S rRNA T1095C mutation. Am. J. Med. Genet. 2005, 133A:27-30.
48. Wang Q., Li Q.Z., Han D., Zhao Y., Zhao L., Qian Y., Yuan H., Li R., Zhai S., Young W.Y., Guan M.X. 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. 2006, 340:583-588.
49. Wang X., Lu J., Zhu Y., Yang A., Yang L., Li R., Chen B., Qian Y., Tang X., Wang J., Zhang X., Guan M.X. Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families. Pharmacogenet. Genom. 2008, 18:1059-1070.
50. Young W.Y., Zhao L., Qian Y., Wang Q., Li N., Greinwald J.H., Guan M.X. Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. Biochem. Biophys. Res. Commun. 2005, 328:1244-1251.
51. Thr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Chinese families with hearing loss. Am. J. Med. Genet. A 2006, 140:2188-2197.
52. Ser(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and non-syndromic hearing loss. Am. J. Med. Genet. 2005, 138A:133-140.
53. Zhao H., Li R., Wang Q., Yan Q., Deng J.H., Han D., Bai Y., Young W.Y., Guan M.X. Maternally inherited aminoglycoside-induced and non-syndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am. J. Hum. Genet. 2004, 74:139-152.
54. Zhao L., Young W.Y., Li R., Wang Q., Qian Y., Guan M.X. 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. Biophys. Res. Commun. 2004, 325:1503-1508.
55. Zhao H., Young W.Y., Yan Q., Li R., Cao J., Wang Q., Li X., Peters J.L., Han D., Guan M.X. Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and nonsyndromic hearing loss. Nucleic Acid Res. 2005, 33:1132-1139.
56. Zhao L., Wang Q., Qian Y., Li R., Cao J., Hart L.C., Zhai S., Han D., Young W.Y., Guan M.X. Clinical evaluation and mitochondrial genome sequence analysis of two Chinese families with aminoglycoside-induced and nonsyndromic hearing loss. Biochem. Biophys. Res. Commun. 2005, 336:967-973.
57. Zhu Y., Li Q., Chen Z., Kun Y., Liu L., Liu X., Yuan H., Zhai S., Han D., Dai P. Mitochondrial haplotype and phenotype of 13 Chinese families may suggest multi-original evolution of mitochondrial C1494T mutation. Mitochondrion 2009, 9:418-428.