Ultrastructural, physiological, and molecular defects in the inner ear of a gene-knockout mouse model for autosomal Alport syndrome

Hearing Research

Volumn 121, Issue 1-2, 1998, Pages 84-98

  Cosgrove, Dominic ^a   Samuelson, Gina ^a   Meehan, Daniel T ^a   Miller, Caroline ^a   McGee, JoAnn ^a   Walsh, Edward J ^a   Siegel, Michel ^a  

^a BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

Author keywords

Basement membrane; Cochlea; Collagen; Pathology; Stria vascularis

Indexed keywords

COLLAGEN TYPE 4; ENTACTIN;

ALPORT SYNDROME; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DISORDER; BASEMENT MEMBRANE; CELL ULTRASTRUCTURE; COCHLEA; CONTROLLED STUDY; ELECTRON MICROSCOPY; EVOKED BRAIN STEM AUDITORY RESPONSE; IMMUNOHISTOCHEMISTRY; INNER EAR; KNOCKOUT MOUSE; MOUSE; NONHUMAN; PRIORITY JOURNAL; STRIA VASCULARIS;

ANIMALS; BASEMENT MEMBRANE; COCHLEA; COLLAGEN; DISEASE MODELS, ANIMAL; ENDOTHELIUM; FEMALE; KIDNEY GLOMERULUS; MALE; MEMBRANE GLYCOPROTEINS; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MICROSCOPY, ELECTRON; MUTATION; NEPHRITIS, HEREDITARY; STRIA VASCULARIS;

EID: 0031875064     PISSN: 03785955     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-5955(98)00069-0     Document Type: Article

References (43)

1. Antignac C., Knebelmann B., Drouo L., Gros F., Deschenes G., Hors-Clays M-C., Zhou J., Tryggvason K., Grunfeld J-P., Broyer M., Gubler M-C. Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Am. Soc. Clin. Invest. 93:1994;1195-1207.
2. Arnold W. Inner ear and renal diseases. Ann. Otol. Rhinol. Laryngol. 112:1984;119-124.
3. Atkin, C.L., Gregory, M.C. and Border, W.A. (1988) Alport syndrome. In: Schrier, R.W. and Gottschalk, C.W. (Eds.), Diseases of the Kidney. Little, Brown, Boston, pp. 617-641.
4. Barker D.E., Hostikka S.L., Zhou J., Show L.T., Oliphant A.R., Gerken S.C., Gregory M.C., Skolnick M.H., Atkin C.L., Tryggvason K. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science. 248:1990;1224-1227.
5. Burns, W.A. and Bretschnieder, A. (1981) Thin is in: plastic embedding of tissue for light microscopy. Educational Products Division, American Society of Clinical Pathologists, Chicago, IL, pp. 24-25.
6. Cassady G., Brown K., Cohen M., Demaria W. Hereditary renal dysfunction and deafness. Pediatrics. 35:1965;967-979.
7. Cosgrove D., Rodgers K.D. Expression of the major basement membrane-associated proteins during postnatal development in the murine cochlea. Hear. Res. 105:1997;159-170.
8. Cosgrove D., Samuelson G., Pinnt J. Immunohistochemical localization of basement membrane collagens and associated proteins in the murine cochlea. Hear. Res. 97:1996;54-65.
9. Cosgrove D., Kornak J.M., Samuelson G. Expression of basement membrane type IV collagen chains during postnatal development in the murine cochlea. Hear. Res. 100:1996;21-32.
10. Cosgrove D., Meehan D.T., Grunkemeyer J.A., Kornak J.M., Sayers R., Hunter W.J., Samuelson G.C. Collagen COL4A3 knockout: a mouse model for autosomal Alport syndrome. Genes Dev. 10:1996;2981-2992.
11. Ding J., Kashtan C.E., Fan W.W., Kleppel M.M., Sun M.J., Kalluri R., Neilson E.G., Michael A.F. A monoclonal antibody marker for Alport syndrome identifies the Alport antigen as the α5 chain of type IV collagen. Kidney Int. 46:1994;1504-1506.
12. Goldbloom R.B., Fraser F.C., Wagh D. Hereditary renal disease associated with nerve deafness and ocular lesions. Pediatrics. 20:1957;241-252.
13. Gratton M.A., Schmiedt R.A., Schulte B.A. Age related decreases in endocochlear potential are associated with vascular abnormalities in the stria vascularis. Hear. Res. 94:1996;116-124.
14. Gubler M.-C., Knebelmann B., Beziau A., Broyer M., Pirson Y., Haddoum F., Kleppel M.M., Antignac C. Autosomal recessive Alport syndrome: Immunohistochemical study of type iv collagen chain distribution. Kidney Int. 47:1995;1142-1147.
15. Hudson B.G., Reeders S.T., Tryggvason K. Type IV collagen: Structure, gene organization, and role in human diseases. J. Biol. Chem. 268:1993;26033-26036.
16. Iverson U.M. Hereditary nephropathy with hearing loss. "Alport's syndrome". Acta Paediatr. Scand. Suppl. 245:1974;1-23.
17. Johansson L-G., Arenberg I.K. Cochlear abnormalities in Alport's syndrome. Arch. Otolaryngol. 107:1981;340-349.
18. Juliano R.L., Haskill S. Signal transduction from the extracellular matrix. J. Cell Biol. 120:1993;577-585.
19. Kashtan C.E., Kim Y. Distribution of the α1 and α2 chains of collagen IV and of collagens V and VI in Alport syndrome. Kidney Int. 42:1992;115-126.
20. Lemmink H.H., Mochizuki T., van den Heuvel L.P.W.J., Schroder C.H., Barrientos A., Monnens L.A.H., van Oost B.A., Brunner H.G., Reeders S.T., Smeets H.J.M. Mutations in the type IV collagen α3 (COLCOL4A3) gene in autosomal recessive Alport syndrome. Hum. Mol. Genet. 3:1994;1269-1273.
21. Lim D.J. Functional structure of the organ of Corti: a review. Hear. Res. 22:1986;117-146.
22. McDonald T.J., Zincke H., Anderson C.F., Ott N.T. Reversal of deafness after renal transplantation in Alport's syndrome. Laryngoscope. 88:1978;38-43.
23. Meyer zum Gottesberg A.M., Reuter A., Weiher H. Inner ear defects similar to Alport's syndrome in the glomerulosclerosis mouse model Mpv17. Eur. Arch. Otolaryngol. 253:1996;470-474.
24. Miner J.H., Sanes J.R. Collagen IV α3, α4, and α5 chains in rodent basal lamina: sequence, distribution, association with laminins, and developmental switches. J. Cell Biol. 127:1994;879-891.
25. Miner J.H., Sanes J.R. Molecular and functional defects in kidneys of mice lacking collagen α3(IV): implications for Alport syndrome. J. Cell Biol. 135:1996;1403-1413.
26. Mitschke H., Schmidt P., Kopsa H., Zazgornik J. Reversible uremic deafness after successful renal transplantation. N. Engl. J. Med. 292:1972;1062-1063.
27. Mochizuki T., Lemmink H.H., Mariyama M., Antignac C., Gubler M-C., Pirson Y., Verellen-Dumoulin C., Chan B., Schroder C.H., Smeets H.J., Reeders S.T. Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome. Nature Genet. 8:1994;77-82.
28. Myers G.J., Tyler H.R. The etiology of deafness in Alport's syndrome. Arch. Otolaryngol. 96:1972;333-340.
29. Perris R., von Boxberg Y., Lofberg J. Local embryonic matrices determine region-specific phenotypes in neural crest cells. Science. 241:1988;86-89.
30. Prophet, E.B., Mills, B., Arrington, J.B. and Sobin, L.H. (1992) Laboratory Methods in Histotechnology. American Registry of Pathology, Washington, DC, p. 29.
31. Rumpelt H.J. Alport's syndrome: specificity in pathogenesis of glomerular basement membrane alterations. Pediatr. Nephrol. 1:1987;422-427.
32. Rupprecht H.D., Schocklmann H.O., Sterzel R.B. Cell-matrix interactions in the glomerular mesangium. Kidney Int. 49:1996;1575-1582.
33. Sakaguchi N., Spicer S.S., Thomopoulos G.N., Schulte B.A. Increased laminin deposition in capillaries of the stria vascularis of quiet-aged gerbils. Hear. Res. 105:1997;44-56.
34. Saus J., Wieslander J., Langeveld J.P., Quinones S., Hudson B.G. Identification of the good pasture antigen and the alpha 3(IV) chain of collagen IV. J. Biol. Chem. 263:1988;13374-13380.
35. Smith R.J.H., Steel K.P., Barkway C., Soucek S., Michaels L. A histologic study of nonmorphogenetic forms of hereditary hearing impairment. Arch. Otolaryngol. Head Neck Surg. 118:1992;1085-1094.
36. Spicer S.S., Schulte B.A. The fine structure of the spiral ligament cells relates to ion return to the stria and varies with place-frequency. Hear. Res. 100:1996;80-100.
37. Streuli C.H., Bailey N., Bissel M.J. Control of mammary epithelial differentiation: basement membrane induces tissue-specific gene expression in the absence of cell-cell interaction and morphological polarity. J. Cell Biol. 115:1991;1383-1395.
38. Takahashi M., Hokunan K. Localization of type IV collagen and laminin in the guinea pig inner ear. Ann. Otol. Rhinol. Laryngol. 101:1992;58-62.
39. Thompson S.M., Deady J.P., Willshaw H.E., White R.H.R. Ocular signs in Alport's syndrome. Eye. 1:1987;146-153.
40. Weidauer H., Arnold W. Strukturelle Veranderungen am Hororgan beim Alport Syndrome. Z. Laryngol. Rhinol. Otol. 55:1976;6-16.
41. Wester D.C., Atkin C.L., Gregory M.C. Alport syndrome: clinical update. J. Am. Acad. Audiol. 6:1995;73-79.
42. Winter L.E., Cram B.M., Banovetz J.D. Hearing loss in hereditary renal disease. Arch. Otolaryngol. 88:1968;236-241.
43. Zwacka R., Reuter A., Pfaff E., Moll J., Gorgas K., Karasawa M., Weiher H. The glomerulosclerosis gene Mpv17 encodes a peroxisomal protein producing reactive oxygen species. EMBO J. 13:1994;5129-5134.