Temporal bone analysis of patients with presbycusis reveals high frequency on mitochondrial mutations

Hearing Research

Volumn 110, Issue 1-2, 1997, Pages 147-154

  Fischel Ghodsian, Nathan ^a   Bykhovskaya, Yelena ^a   Taylor, Kent ^a   Kahen, Tanaz ^a   Cantor, Rita ^a   Ehrenman, Karen ^a   Smith, Richard ^b   Keithley, Elizabeth ^c  

^a Steven Spielberg Pediatric Research Center   (United States)

^b UNIVERSITY OF IOWA HEALTH CARE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Aging; Archival temporal bones; Cochlea; Mitochondrial DNA; Mutations; Presbycusis

Indexed keywords

MITOCHONDRIAL DNA;

AGED; AGING; ARTICLE; CLINICAL ARTICLE; COCHLEA AQUEDUCT; CONTROLLED STUDY; FETUS; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; HYPOTHESIS; INNER EAR; NEUROMUSCULAR DISEASE; PRESBYACUSIS; PRIORITY JOURNAL; SCHOOL CHILD; SPIRAL GANGLION; TEMPORAL BONE;

AGED; AGED, 80 AND OVER; AGING; CHILD; DNA, MITOCHONDRIAL; EAR, INNER; ELECTRON TRANSPORT COMPLEX IV; FEMALE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; PRESBYCUSIS; SPIRAL GANGLION; TEMPORAL LOBE;

EID: 0030745117     PISSN: 03785955     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-5955(97)00077-4     Document Type: Article

References (38)

1. Attardi G., Schatz G. Biogenesis of mitochondria. Annu. Rev. Cell Biol. 4:1988;289-333.
2. 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. 5:1995;165-172.
3. Ballinger S.W., Shoffner J.M., Hedaya E.V., Trounce I., Polak M.A., Koontz D.A., Wallace D.C. Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial deletion. Nat. Genet. 1:1992;11-15.
4. Baumer A., Zhang C., Linnane A.W., Nagley P. Age-related human mtDNA deletions: a heterogenous set of deletions arising at a single pair of directly repeated sequences. Am. J. Hum. Genet. 54:1994;618-630.
5. Birnboim H.C. A rapid alkaline extraction method for the isolation of plasmid DNA. Methods Enzymol. 100:1983;243-255.
6. Bredberg G. Cellular pattern and nerve supply of the human organ of Corti. Acta Otolaryngol. (Stockh.) Suppl. 236:1968;1-135.
7. Briner W., Willott J.F. Ultrastructural features of neurons in the C57BL/6J mouse anteroventral cochlear nucleus: young mice versus old mice with chronic presbyacusia. Neurobiol. Aging. 10:1989;295-303.
8. Corral-Debrinski M., Horton T., Lott M.T., Shoffner J.M., Beal M.F., Wallace D.C. Mitochondrial DNA deletions in human brain: Regional variability and increase with advanced age. Nat. Genet. 2:1992;324-329.
9. Cortopassi G., Arnheim N. Detection of a specific mitochondrial DNA deletion in tissues of older humans. Nucl. Acids Res. 18:1990;6927-6933.
10. Dawson, D.A., Adams, P.F., 1987. National Center for Health Statistics: Current Estimates from the Health Interview Survey, United States, 1986. United States Department of Health and Human Services.
11. Fischel-Ghodsian N., Bohlman C., Prezant T.R., Graham J.M., Cederbaum S.D., Edwards M.J. Deletion in mitochondrial DNA in Kearns-Sayre syndrome. Pediatr. Res. 31:1992;557-560.
12. 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. 14:1993;399-403.
13. Fischel-Ghodsian N., Prezant T.R., Fournier P., Stewart I.A., Maw M. Mitochondrial tRNA mutation associated with non-syndromic deafness. Am. J. Otolaryngol. 16:1995;403-408.
14. Fischel-Ghodsian N., Prezant T.R., Chaltraw W., Wendt K.A., Nelson R.A., Arnos K.S., Falk R.E. Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity. Am. J. Otolaryngol. 18:1997;173-178.
15. Fisher, R.A., 1970. Statistical Methods for Research Workers, 4th ed. Hufner Press, New York.
16. Freeman G.H., Halton J.H. Notes on an exact treatment of contingency, goodness of fit and other problems of significance. Biometrika. 38:1951;141-149.
17. Gross N.J., Getz G.S., Rubinowitz M. Apparent turnover of mitochondrial deoxyribonucleic acid and mitochondrial phospholipids in the tissue of rat. J. Biol. Chem. 244:1969;1552-1562.
18. Guild S.R., Crowe S.J., Bunch C.C., Polvogt L.M. Correlations of differences in the density of innervation of the organ of Corti with differences in acuity of hearing, including evidence as to location in the cochlea of receptors for certain tones. Acta Otolaryngol. 15:1931;269-308.
19. Johnsson L.G., Hawkins J.E. Sensory and neural degeneration with age as seen in microdissections the human inner ear. Annu. Otol. Rhinol. Laryngol. 81:1972;179-193.
20. Johnsson L.G., Hawkins J.E. Symposium on basic ear research. II. Strial atrophy in clinical and experimental deafness. Laryngoscope. 82:1972;1105-1125.
21. Hsieh R.-H., Hou J.-H., Hsu H.-S., Wei Y.-H. Age-dependent respiratory function decline and DNA deletions in human muscle mitochondria. Biochem. Mol. Biol. Int. 32:1994;1009-1022.
22. Keithley E.M., Feldman M.L. Hair cells counts in an age-graded series of rat cochleas. Hear. Res. 8:1982;249-262.
23. Keithley E.M., Ryan A.F., Feldman M.L. Cochlear degeneration in aged rats of four strains. Hear. Res. 59:1992;171-178.
24. Linnane A.W., Baumer A., Maxwell R.J., Preston H., Zhang C., Marzuki S. Mitochondrial gene mutation, The aging process and degenerative diseases. Biochem. Int. 22:1990;1067-1076.
25. Munscher C., Muller-Hocker J., Kadenbach B. Human aging is associated with various point mutations in tRNA genes of mitochondrial DNA. Biol. Chem. 374:1993;1099-1104.
26. Nagley, P., Zhang, C., Martinus, R.D., Vaillant, F., Linnane, A.W., 1993. Mitochondrial DNA mutation and human aging. Molecular biology, bioenergetics, and redox therapy. In: DiMauro, S., Wallace, D.C. (Eds.), Mitochondrial DNA in Human Pathology. Raven Press, New York.
27. Oshima T., Ueda N., Ikeda K., Abe K., Takasaka T. Bilateral sensorineural hearing loss associated with the point mutation in mitochondrial genome. Laryngoscope. 106:1996;43-48.
28. Pallotti F., Chen X., Bonilla E., Schon E.A. Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging. Am. J. Hum. Genet. 59:1996;591-602.
29. Prezant T.R., Agapian J.V., Bohlman M.C., Bu X., Oztas S., Qiu Q.-W., 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. 4:1993;289-294.
30. Reid F.M., Vernham G.A., Jacobs H.T. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum. Mutat. 3:1994;243-247.
31. Ryan A.F., Watts A.G. Expression of mRNAs encoding α and β isoforms of the Na,K-ATPase in the rat cochlea. Mol. Cell. Neurosci. 2:1991;179-187.
32. Schuknecht H.F., Gacek M.R. Cochlear pathology in presbycusis. Annu. Otol. Rhinol. Laryngol. 102:1993;1-16.
33. Seidman M.D., Bai U., Khan M.J., Murphy M.J., Quirk W.S., Castora F.L., Hinojosa R. Association of mitochondrial DNA deletions and cochlear pathology, a molecular biologic tool. Laryngoscope. 106:1996;777-783.
34. Simpson T.A., Smith R.J.H. Amplification of mitochondrial DNA from archival temporal bone specimens. Laryngoscope. 105:1995;28-34.
35. Soong N.W., Hinton D.R., Cortopassi G., Arnheim N. Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain. Nat. Genet. 2:1992;318-323.
36. Veltri K.L., Espiritu M., Singh G. Distinct genomic copy number in mitochondria of different mammalian organs. J. Cell. Physiol. 143:1990;160-164.
37. Yen T.C., Chen Y.S., King K.L., Yeh S.H., Wei Y.H. Liver mitochondrial respiratory functions decline with age. Biochem. Biophys. Res. Commun. 165:1989;994-1003.
38. Zhang C., Linnane A.W., Nagley P. Occurrence of a particular base substitution (3243 A to G) in mitochondrial DNA of tissues of ageing humans. Biochem. Biophys. Res. Commun. 195:1993;1104-1110.