Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss

Human Genetics

Volumn 117, Issue 1, 2005, Pages 9-15

  Li, Zhiyuan ^a   Li, Ronghua ^b   Chen, Jianfu ^a   Liao, Zhisu ^a   Zhu, Yi ^a   Qian, Yaping ^b   Xiong, Sudao ^a   Heman Ackah, Selena ^b   Wu, Jianbo ^a   Choo, Daniel I ^b,c   Guan, Min Xin ^a,b,c  

^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

[No Author keywords available]

Indexed keywords

AMINOGLYCOSIDE ANTIBIOTIC AGENT; GENOMIC DNA; MITOCHONDRIAL DNA; MITOCHONDRIAL RNA; RIBOSOME RNA;

ADOLESCENT; ARTICLE; BLOOD SAMPLING; CHINESE; CONTROLLED STUDY; DISEASE CLASSIFICATION; DISEASE SEVERITY; DNA ISOLATION; DRUG INDUCED DISEASE; EVOKED AUDITORY RESPONSE; FEMALE; GENE LOCATION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HEARING LOSS; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; OTOTOXICITY; POPULATION DISTRIBUTION; PRIORITY JOURNAL; SCHOOL CHILD; STATISTICAL ANALYSIS; STATISTICAL SIGNIFICANCE;

ADOLESCENT; AMINOGLYCOSIDES; CHILD; CHINA; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS; HUMANS; MALE; RNA, RIBOSOMAL;

EID: 20344407298     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-005-1276-1     Document Type: Article

References (40)

1. Anderson S, Bankier AT, Barrell BG, deBruijn MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Rose BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young I (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457-465
2. Bacino C, Prezant TR, 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 MJ, Van Etten RA, Wright CT, Walberg MW, Clayton DA (1981) Sequence and gene organization of mouse mitochondrial DNA. Cell 26:167-180
4. Casano RA, Johnson DF, Bykhovskaya Y, Torricelli F, Bigozzi M, Fischel-Ghodsian N (1999) Inherited susceptibility to aminoglycoside ototoxicity: Genetic heterogeneity and clinical implications. Am J Otolaryngol 20:151-156
5. HF Chamber MA Sande 1996 The aminoglycosides In: JG Hardman LE Limbird PB Molinoff RW Ruddon AG Gilman (eds) The pharmacological basis of therapeutic, 9th edn McGraw-Hill New York pp 1103-1221
6. Davis J, Davis BD (1968) Misreading of ribonucleic acid code words induced by aminoglycoside antibiotics. J Biol Chem 243:3312-3316
7. Estivill X, Govea N, Barcelo E, Badenas C, Romero E, Moral L, Scozzari R, D'Urbano L, Zeviani M, Torroni A (1998) Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides. Am J Hum Genet 62:27-35
8. Fischel-Ghodsian N (1999) Genetic factor in aminoglycoside ototoxicity. Ann NY Acad Sci 884:99-109
9. Fischel-Ghodsian N, Prezant TR, Bu X, Oztas S (1993) Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity. Am J Otolaryngol 4:399-403
10. Gadaleta G, Pepe G, De Candia G, Quagliariello C, Sbisa E, Saccone C (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
11. Guan MX (2004) Molecular pathogenetic mechanism of maternally inherited deafness. Ann NY Acad Sci 1011:259-271
12. Guan MX, Fischel-Ghodsian N, Attardi G (1996) Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. Hum Mol Genet 5:963-971
13. Guan MX, Fischel-Ghodsian N, Attardi G (2001) Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation. Hum Mol Genet 10:573-580
14. Higashi K (1989) Unique inheritance of streptomycin-induced deafness. Clin Genet 35:433-436
15. Hu DN, Qui WQ, Wu BT, Fang LZ, Gu YP, Zhang QH, Yan JH, Ding YQ, Wong H (1991) Genetic aspects of antibiotic induced deafness: Mitochondrial inheritance. J Med Genet 28:79-83
16. Hutchin TP, Haworth I, Higashi K, Fischel-Ghodsian N, Stoneking M, Saha N, Arnos C, Cortopassi G (1993) A molecular basis for human hypersensitivity to aminoglycoside antibiotics. Nucleic Acids Res 21:4174-4179
17. Hutchin TP, Thompson KR, Parker M, Newton V, Bitner-Glindzicz M, Mueller RF (2001) Prevalence of mitochondrial DNA mutations in childhood/ congenital onset non-syndromal sensorineural hearing impairment. J Med Genet 38:229-231
18. Kogelnik AM, Lott MT, Brown MD, Navathe SB, Wallace DC (1998) MITOMAP: A human mitochondrial genome database - 1998 update. Nucleic Acids Res 26:112-115
19. Kupka S, Tóth T, Wróbel M, Zeißler, Szyfter W, Szyfter K, Niedzielska G, Bal J, Zenner HP, Sziklai I, Blin N, Pfister M (2002) Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian and Polish patients. Hum Mutat 19:308-309
20. Li R, Greinwald JH, Yang L, Choo DI, Wenstrup RJ, Guan MX (2004a) Molecular analysis of mitochondrial 12S rRNA and tRNA Ser(UCN) genes in paediatric subjects with nonsyndromic hearing loss. J Med Genet 41:615-620
21. Li R, Xing G, Yan M, Cao X, Liu XZ, Bu X, Guan MX (2004b) 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 124A:113-117
22. Lortholary O, Tod M, Cohen Y, Petitjean O (1995) Aminoglycosides. Med Clin North Am 79:761-798
23. Matthijs G, Claes S, Longo-Bbenza B, Cassiman J-J (1996) 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 4:46-51
24. Morton CC (2002) Genetics, genomics and gene discovery in the auditory system. Hum Mol Genet 11:1229-1240
25. Neefs JM, Van de Peer Y, De Rijik P, Goris A, De Wachter R (1991) Compilation of small ribosomal subunit RNA sequences. Nucleic Acids Res 19 (Suppl):1987-2018
26. Noller HF (1991) Ribosomal RNA and translation. Annu Rev Biochem 60:191-227
27. Pandya A, Xia X, Radnaabazar J, Batsuuri J, Dangaansuren B, Fischel-Ghodsian N, Nance WE (1997) Mutation in the mitochondrial 12S ribosomal-RNA gene in 2 families from Mongolia with matrilineal aminoglycoside ototoxicity. J Med Genet 34:169-172
28. Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, Arnos KS, Cortopassi GA, Jaber L, Rotter JI, Shohat M, Fischel-Ghodsian N (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 4:289-294
29. Rieder MJ, Taylor SL, Tobe VO, Nickerson DA (1998) Automating the identification of DNA variations using quality-based fluorescence re-sequencing: Analysis of the human mitochondrial genome. Nucleic Acids Res 26:967-973
30. Roe A, Ma DP, Wilson RK, Wong JF (1985) The complete nucleotide sequence of the Xenopus laevis mitochondrial genome. J Biol Chem 260:9759-9774
31. MA Sande GL Mandell 1990 Antimicrobial agents In: AG Gilman TW Rall AS Nies P Taylor (eds) Goodman and Gilman's The pharmacological basis of therapeutics, 8th edn Pergamon Press New York pp 1098-1116
32. Tang HY, Hutcheson E, Neill S, Drummond-Borg M, Speer M, Alford RL (2002) Genetic susceptibility to aminoglycoside ototoxicity: How many are at risk?. Genet Med 4:336-345
33. Tekin M, Duman T, Bogoclu G, Incesulu A, Comak E, Fitoz S, Yilmaz E, Ilhan I, Akar N (2003) Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. Eur J Pediatr 162:154-158
34. Tessa A, Giannotti A, Tieri L, Vilarinho L, Marotta G, Santorelli FM (2001) Maternally inherited deafness associated with a T1095C mutation in the mDNA. Eur J Hum Genet 9:147-149
35. Thyagarajan D, Bressman S, Bruno C, Przedborski S, Shanske S, Lynch T, Fahn S, DiMauro S (2001) A novel mitochondrial 12SrRNA point mutation in Parkinsonism, deafness and neuropathy. Ann Neurol 48:730-736
36. Usami SI, Abe S, Kasai M, Shinkawa H, Moeller B, Kenyon JB, Kimberling WJ (1997) Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation. Laryngoscope 107:483-490
37. Usami SI, 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 (2000) Prevalence of mitochondrial gene mutations among hearing impaired patients. J Med Genet 37:38-40
38. Young WY, Zhao L, Qian Y, Wang Q, Li N, Greinwld JH, Guan MX (2005) Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. Biochem Biophys Res Commun 328:1244-1251
39. Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, Bai Y, Young WY, Guan MX (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
40. Zhao L, Young WY, Li R, Wang Q, Qian Y, Guan MX (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 Biophys Res Commun 325:1503-1508