Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss

Biochemical and Biophysical Research Communications

Volumn 395, Issue 1, 2010, Pages 116-121

  Rydzanicz, Małgorzata ^a   Wróbel, Maciej ^b   Pollak, Agnieszka ^c   Gawecki, Wojciec ^b   Brauze, Damian ^a   Kostrzewska Poczekaj, Magdalena ^a   Wojsyk Banaszak, Irena ^b   Lechowicz, Urszula ^c   Mueller Malesińska, Małgorzata ^c   Ołdak, Monika ^d   Płoski, Rafał ^e   Skarz̈yński, Henryk ^c   Szyfter, Krzysztof ^a,b  

^a INSTITUTE OF HUMAN GENETICS   (Poland)

^b POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^c INSTITUTE OF PHYSIOLOGY AND PATHOLOGY OF HEARING   (Poland)

^d MEDICAL UNIVERSITY OF WARSAW   (Poland)

^e MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

12S rRNA gene mutations; Aminoglycoside induced hearing loss; Mitochondrial DNA; Non syndromic hearing loss

Indexed keywords

ALANINE; AMIKACIN; AMINOGLYCOSIDE ANTIBIOTIC AGENT; CYSTEINE; GENTAMICIN; GLYCINE; MITOCHONDRIAL RNA; RNA 12S; THREONINE; AMINOGLYCOSIDE; ANTIINFECTIVE AGENT; RIBOSOME RNA; RNA, RIBOSOMAL, 12S;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BRONCHITIS; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; DRUG EXPOSURE; FEMALE; GENE DELETION; GENE FREQUENCY; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HEARING IMPAIRMENT; HEARING LOSS; HOMOPLASY; HUMAN; INCIDENCE; INFANT; MAJOR CLINICAL STUDY; MALE; MENIERE DISEASE; MUTATIONAL ANALYSIS; NON SYNDROMIC HEARING LOSS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; POLAND; PRESCHOOL CHILD; PRIORITY JOURNAL; PURE TONE AUDIOMETRY; RISK FACTOR; RNA SEQUENCE; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; CAUCASIAN; CHEMICALLY INDUCED DISORDER; GENETIC POLYMORPHISM; GENETICS; MIDDLE AGED; MITOCHONDRIAL GENE; NEWBORN; PEDIGREE;

ADOLESCENT; ADULT; AMINOGLYCOSIDES; ANTI-BACTERIAL AGENTS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENES, MITOCHONDRIAL; GENETIC TESTING; HEARING LOSS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; PEDIGREE; POLAND; POLYMORPHISM, GENETIC; RNA, RIBOSOMAL; YOUNG ADULT;

EID: 77951903571     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2010.03.149     Document Type: Article

References (30)

1. N.E. Morton, Genetic epidemiology of hearing impairment, Ann. NY Acad. Sci. 630 (1991) 16-31.
2. W. Szyfter, M. Wróbel, M. Radziszewska-Konopka, et al., Polish universal neonatal hearing screening program - 4-year experience (2003-2006), Int. J. Pediatr. Otorhinolaryngol. 72 (2008) 1783-1787.
3. Y.A. Bayazit, M. Yilmaz, An overview of hereditary hearing loss, ORL J. Otorhinolaryngol. Relat. Spec. 68 (2006) 57-63.
4. G. Van Camp, R.J.H. Smith, Hereditary Hearing Loss Homepage. Available from:.
5. H. Kokotas, M.B. Petersen, P.J. Willems, Mitochondrial deafness, Clin. Genet. 71 (2007) 379-391.
6. G. Xing, Z. Chen, Q. Wei, et al., Maternally inherited non-syndromic hearing loss associated with mitochondrial 12SrRNA A827G mutation in a Chinese family, Biochem. Biophys. Res. Commun. 344 (2006) 1253-1257.
7. M. Yoshida, T. Shintani, M. Hirao, et al., Aminoglycoside-induced hearing loss in a patient with the 961 mutation in mitochondrial DNA, ORL J. Otorhinolaryngol. Relat. Spec. 64 (2002) 219-222.
8. Z. Li, R. Li, J. Chen, et al., Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss, Hum. Genet. 117 (2005) 9-15.
9. H. Zhao, R. Li, Q. Wang, et al., 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 (2004) 139-152.
10. T.R. Prezant, J.V. Agapian, M.C. Bohlman, et al., Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness, Nat. Genet. 4 (1993) 289-294.
11. H. Zhao, W.Y. Young, Q. Yan, et al., Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycosideinduced and non-syndromic hearing loss, Nucleic Acids Res. 33 (2005) 1132-1139.
12. M.X. Guan, N. Fischel-Ghodsian, G. Attardi, A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity, Hum. Mol. Genet. 9 (2000) 1787-1793.
13. S. Kupka, T. Tóth, M. Wróbel, U. Zeissler, et al., Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients, Hum. Mutat. 19 (2002) 308-309.
14. M. Wróbel, M. Magierska-Krzysztoń, M. Rydzanicz, et al., Comparison of rehabilitation results in deaf patients with confirmed and non-confirmed genetic background of hearing loss, Cochlear Implants Int. 9 (2008) 132-142.
15. A. Pollak, A. Skórka, M. Mueller-Malesińska, et al., M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance, Am. J. Med. Genet. A 143A (2007) 2534-2543.
16. Ser(UCN) genes, Genet. Test Mol. Biomarkers 13 (2009) 167-172.
17. S. Berrettini, F. Forli, S. Passetti, et al., Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature, Biosci. Rep. 28 (2008) 49-59.
18. V.C. de Moraes, F. Alexandrino, P.B. Andrade, et al., Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment, Biochem. Biophys. Res. Commun. 381 (2009) 210-213.
19. P. Dai, Y. Yuan, D. Huang, Y. Qian, et al., Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA T1095C mutation in three Chinese families, Biochem. Biophys. Res. Commun. 348 (2006) 200-205.
20. J. Lu, Y. Qian, Z. Li, A. Yang, et al., Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation, Mitochondrion 10 (2010) 69-81.
21. M. Lévêque, S. Marlin, L. Jonard, et al., Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip, Eur. J. Hum. Genet. 15 (2007) 1145-1155.
22. A. Konings, G. Van Camp, A. Goethals, et al., Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients, Mitochondrion 8 (2008) 377-382.
23. M. Elstner, C. Schmidt, V.C. Zingler, et al., Mitochondrial 12S rRNA susceptibility mutations in aminoglycoside-associated and idiopathic bilateral vestibulopathy, Biochem. Biophys. Res. Commun. 377 (2008) 379-383.
24. G. Xing, Z. Chen, Q. Wei, et al., Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family, Biochem. Biophys. Res. Commun. 344 (2006) 1253-1257.
25. M.R. Chaig, M.E. Zernotti, N.W. Soria, et al., A mutation in mitochondrial 12S rRNA, A827G, in Argentinean family with hearing loss after aminoglycoside treatment, Biochem. Biophys. Res. Commun. 368 (2008) 631-636.
26. M. Tanaka, V.M. Cabrera, A.M. González, et al., Mitochondrial genome variation in eastern Asia and the peopling of Japan, Genome Res. 14 (2004) 1832-1850.
27. Y.G. Yao, A. Salas, C.M. Bravi, H.J. Bandelt, A reappraisal of complete mtDNA variation in East Asian families with hearing impairment, Hum. Genet. 119 (2006) 505-515.
28. M. Yoshida, T. Shintani, M. Hirao, et al., Aminoglycoside-induced hearing loss in a patient with the 961 mutation in mitochondrial DNA, ORL 64 (2002) 219-222.
29. C. Bacino, T.R. Prezant, X. Bu, P. Fournier, N. Fischel-Ghodsian, Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness, Pharmacogenetics 5 (1995) 165-172.
30. K. Kobayashi, T. Oguchi, K. Asamura, et al., Genetic features, clinical phenotypes, and prevalence of sensorineural hearing loss associated with the 961delT mitochondrial mutation, Auris Nasus Larynx 32 (2005) 119-124.