Prevalence of the A1555G mutation in the mitochondrial DNA in patients with cochlear or vestibular damage due to aminoglycoside-induced ototoxicity;Prevalencia de la mutación A1555G en el ADN mitocondrial en pacientes con patología auditiva o vestibular debida a la ototoxicidad de los aminoglucósidos

Acta Otorrinolaringologica Espanola

Volumn 55, Issue 5, 2004, Pages 212-217

  Gallo Teran J ^a   Arellano, B ^b   Morales Angulo, Carmelo ^c,e   Modamio Hoybjor S ^d   Moreno Pelayo, M A ^d   Ramirez Camacho R ^b   Del Castillo, I ^d   Moreno, F ^d  

^a HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^b HOSPITAL UNIVERSITARIO PUERTA DE HIERRO   (Spain)

^c HOSPITAL SIERRALLANA   (Spain)

^d HOSPITAL RAMÓN Y CAJAL   (Spain)

^e NONE   (Spain)

Author keywords

A1555G mutation; Aminoglycoside; Hearing loss; Mitochondrial genome; Ototoxicity

Indexed keywords

AMINOGLYCOSIDE; MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; COCHLEA INJURY; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DRUG EXPOSURE; FAMILY HISTORY; FEMALE; GENE MUTATION; GENOME; HEARING LOSS; HUMAN; MALE; OTOTOXICITY; PREVALENCE; VESTIBULAR DISORDER; CHEMICALLY INDUCED DISORDER; GENETICS; MIDDLE AGED; MUTATION; SPAIN;

ADOLESCENT; ADULT; AGED; AMINOGLYCOSIDES; DNA, MITOCHONDRIAL; FEMALE; HEARING LOSS; HUMANS; MALE; MIDDLE AGED; MUTATION; SPAIN;

EID: 5444225033     PISSN: 00016519     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0001-6519(04)78511-8     Document Type: Article

References (40)

1. Gravel M, Melancon P, Brakier-Gingras L. Cross-linking of streptomycin to the 16S ribosomal RNA of Escherichia coli. Biochemistry 1987; 26: 6227-32.
2. Fischel-Ghodsian N. Genetic factors in aminoglycoside toxicity. Ann N Y Acad Sci 1999; 28: 99-109.
3. Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 1993; 4: 289-94.
4. Hamasaki K, Rando RR. Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness. Biochemistry 1997; 36: 12323-8.
5. Henley CM, Schacht C. Pharmacokinetics of aminoglycoside antibiotics in blood, inner-ear fluids and tissues and their relationship to ototoxicity. Audiology 1988; 27: 137-46.
6. Sarduy M, del Castillo I, Villamar M, Romero L, Herraiz C, Hernández FJ, et al. Genetic study of mitochondrially inherited sensorineural hearing impairment in eight large families from Spain and Cuba. En: "Developments in Genetic Hearing Impairment", Stephens D, Read A, Martini A (eds.). Whurr Publishers, Londres, 1998. Capítulo 22, páginas 121-5.
7. Estivill X, Govea N, Barceló A, Perelló E, Badenas C, Romero E, et al. 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.
8. Kupka S, Toth T, Wrobel M, Zeissler U, Szyfter W, Szyfter K, et al. Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian and Polish patients. Hum Mutat 2002; 19: 308-9.
9. Hu D-N, Qiu W-Q, Wu B-T, Fang LZ, Zhou F, Gu Y-P, et al. Genetic aspects of antibiotic induced deafness: mitochondrial inheritance. J Med Genet 1991; 28: 79-83.
10. Fischel-Ghodsian N, Prezant TR, Chaltraw W, Wendt KA, Nelson A, Arnos KS, et al. Mitochondrial gene mutation is a common predisposing factor in aminoglycoside ototoxicity. Am J Otolaryngol 1997; 18: 173-8.
11. Usami S, Abe S, Akita J, Namba A, Shinkawa H, Ishii M, et al. Prevalence of mitochondrial gene mutations among hearing impaired patients. J Med Genet 2000; 37: 38-40.
12. Liu X, Xu L. Nonsyndromic hearing loss: an analysis of audiograms. Ann Otol Rhinol Laryngol 1994;103:428-33.
13. www.biap.org/biapespagnol/recom07015spain.pdf.
14. Gallo-Terán J, Morales-Angulo C, del Castillo I, Moreno-Pelayo MA, Mazón A, Moreno F. Predisposición familiar a la ototoxicidad de los aminoglucósidos debido a la mutación A1555G del ADN mitocondrial. Med Clin (Barc) 2003; 121: 216-8.
15. Yuan H, Jiang S, Yang W, Guo W, Cao J, Dai P. Screening for mitochondrial 1555(G) mutation in patients with aminoglycoside antibiotic-induced deafness. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 1999; 16: 141-4.
16. Pandya A, Xia X, Radnaabazar J, Batsuuri J, Dangaansuren B, Fischel-Ghodsian N, et al. Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. J Med Genet 1997; 34: 169-72.
17. el-Schahawi M, Lopez de Munain A, Sarrazin AM, Shanske AL, Basirico M, Shanske S, et al. Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12S rRNA gene: evidence of heteroplasmy. Neurology 1997; 48: 453-6.
18. Morales-Angulo C, del Castillo I, Sarduy M, Villamar M, Mazón A, Moreno F. Hipoacusia familiar no sindrómica transmitida por herencia mitocondrial. Acta Otorrinolaringol Esp 1999; 50: 93-9.
19. Zhang N, Qiao X, Wang L, Liang C. Mitochondrial DNA mutations in matrilineal nonsyndromic deafness pedigrees of southwest China. Hua Xi Yi Ke Da Xue Bao 2001; 32: 596-8.
20. Ke X, Qi Y, Gu Z, Zhang Z, Zhang W, Jiang S, et al. Aminoglycoside ototoxicity associated with mitochondrial DNA mutation. Lin Chuang Er Bi Yan Hou Ke Za Zhi 1999; 13: 195-7.
21. Zhang L, Lu M, Huang Y, Zhou X, Qiu D, Wang W. The relation between mitochondrial DNA mutation and aminoglycoside antibiotics-induced deafness. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 1999; 16: 138-40.
22. Morales-Angulo C, Gallo-Terán J, del Castillo I, Moreno-Pelayo MA, García-Mantilla J, Moreno F. Características audiométricas de la hipoacusia familiar transmitida por herencia mitocondrial (A1555G). Acta Otorrinolaringol Esp 2002; 53: 641-8.
23. Fischel-Ghodsian N, Prezant TR, Bu X, Oztas S. Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity. Am J Otolaryngol 1993; 14: 399-403.
24. Hutchin T, Stoneking M, Qiu WQ, Fischel-Ghodsian N, Cortopassi G. Association of a particular point mutation of the mitochondrial DNA with aminoglycoside-induced deafness. Am J Hum Genet 1993; 53: A20.
25. Usami S, Abe S, Kasai M, Shinkawa H, Moeller B, Kenyon J, et al. Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation. Laryngoscope 1997; 107: 483-90.
26. Gardner JC, Goliath R, Viljoen D, Sellars S, Cortopassi G, Hutchin T, et al. Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder. J Med Genet 1997; 34: 904-6.
27. Shohat M, Fischel-Ghodsian N, Legum C, Halpern GJ. Aminoglycoside-induced deafness associated with the mitochondrial DNA mutation A1555G. Am J Otolaryngol 1999; 20: 64-7.
28. Bacino C, Prezant TR, Bu X, Fournier P, Fischel-Ghodsian N. Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness. Pharmacogenetics 1995; 5: 165-72.
29. Casano RAMS, Johnson DF, Hamon M, Bykhovskaya Y, Torricelli F, Bigozzi M, et al. Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications. Am J Otolaryngol 1999; 20: 151-56.
30. Yoshida M, Shintani T, Hirao M, Himi T, Yamaguchi A, Kikuchi K. Aminoglycoside-induced hearing loss in a patient with the 961 mutation in mitochondrial DNA. ORL J Otorhinolaryngol Relat Spec 2002; 64: 219-22.
31. Tabg HY, Hutcheson E, Neill S, Drummond-Borg M, Speer M, Alford RL. Genetic susceptibility to aminoglycoside ototoxicity: how many are at risk? Genet Med 2002; 4: 336-45.
32. Tessa A, Giannotti A, Tieri L, Vilarinho L, Marotta G, Santorelli FM. Maternally inherited deafness associated with a T1095C mutation in the mDNA. Europ J Hum Genet 2001; 9: 147-9.
33. Schact J. Biochemical basis of aminoglycoside ototoxicity. Otolaryngol Clin North Am 1993; 5: 845-56.
34. Usami S, Abe S, Tono T, Komune S, Kimberling WJ, Shinkawa H. Isepamicin sulfate-induced sensorineural hearing loss in patients with the 1555 AG mitochondrial mutation. ORL J Otorhinolaryngol Relat Spec 1998; 60: 164-9.
35. Abe S, Kelley PM, Kimberling WJ, Usami SI. Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555 AG mitochondrial mutation. Am J Med Genet 2001; 103: 334-8.
36. Bykhovskaya Y, Yang H, Taylor K, Hang T, Tun RY, Estivill X, et al. Modifier locus for mitochondrial DNA disease: linkage and linkage desequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. Genet Med 2001; 3: 177-80.
37. Li X, Li R, Lin X, Guan MX. Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12S rRNA A1555G mutation. J Biol Chem 2002; 277: 27256-64.
38. Tsuiki T, Murai K, Murai S, Kitamura K, Tamagawa Y. Audiologic features of hearing loss due to the 1555 mutation of mitochondrial DNA. Ann Otol Rhinol Laryngol 1997; 106: 643-8.
39. Fischel-Ghodsian N. Mitochondrial deafness mutations reviewed. Hum Mutat 1999; 13: 261-70.
40. Braverman I, Jaber L, Levi H, Adelman C, Arnos KS, Fischel-Ghodsian N, et al. Audio-vestibular findings in patients with deafness caused by a mitochondrial susceptibility mutation and precipitated by an inherited nuclear mutation or aminoglycosides. Arch Otolaryngol Head Neck Surg 1996; 122: 1001-4.