Ochronosis in a murine model of alkaptonuria is synonymous to that in the human condition

Osteoarthritis and Cartilage

Volumn 20, Issue 8, 2012, Pages 880-886

  Taylor, A M ^a   Preston, A J ^a   Paulk, N K ^b   Sutherland, H ^a   Keenan, C M ^a   Wilson, P J M ^a   Wlodarski, B ^a   Grompe, M ^b   Ranganath, L R ^a   Gallagher, J A ^a   Jarvis, J C ^a  

^a UNIVERSITY OF LIVERPOOL   (United Kingdom)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

Alkaptonuria; Arthritis; Arthropathy; Mouse model; Ochronosis

Indexed keywords

EOSIN; HEMATOXYLIN;

ALKAPTONURIA; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CARTILAGE CELL; FEMALE; FEMUR; FIBULA; GENOTYPE; HISTOPATHOLOGY; KIDNEY DISEASE; KIDNEY NECROSIS; MALE; MOUSE; NEPHRITIS; NONHUMAN; OCHRONOSIS; PRIORITY JOURNAL; TYROSINEMIA;

ALKAPTONURIA; ANIMALS; CHONDROCYTES; DISEASE MODELS, ANIMAL; DISEASE PROGRESSION; FEMALE; HINDLIMB; HOMOGENTISATE 1,2-DIOXYGENASE; JOINT DISEASES; KIDNEY DISEASES; MALE; MICE; OCHRONOSIS;

EID: 84863003048     PISSN: 10634584     EISSN: 15229653     Source Type: Journal    
DOI: 10.1016/j.joca.2012.04.013     Document Type: Article

References (23)

1. O'Brien W.M., La Du B.N., Bunim J.J. Biochemical, pathological and clinical aspects of alkaptonuria, ochronosis and ochronotic arthropathy. Am J Med 1963, 34:813-838.
2. Seegmiller J.E., Zannoni V.G., Laster L., La Du B.N. An enzymatic spectrophotometric method for the determination of homogentisic acid in plasma and urine. J Biol Chem 1961 Mar, 236:774-777.
3. Taylor A.M., Wlodarski B., Prior I.A., Wilson P.J.M., Jarvis J.C., Ranganath L.R., et al. Ultrastructural examination of tissue in a patient with alkaptonuric arthropathy reveals a distinct pattern of binding of ochronotic pigment. Rheumatology 2010, 49:1412-1414.
4. Helliwell T.R., Gallagher J.A., Ranganath L.R. Alkaptonuria - a review of surgical and autopsy pathology. Histopathology 2008, 53:503-512.
5. Taylor A.M., Wilson P.J.M., Ingrams D.R., Helliwell T.R., Gallagher J.A., Ranganath L.R. Calculi and intracellular ochronosis in the submandibular tissues from a patient with alkaptonuria. J Clin Pathol 2010; Feb, 63(2):186-188.
6. Taylor A.M., Boyde A., Wilson P.J.M., Jarvis J.C., Davidson J.S., Hunt J.A., et al. The role of calcified cartilage and subchondral bone in the initiation and progression of ochronotic arthropathy in alkaptonuria. Arthritis Rheum 2011 Dec, 63(12):3887-3896.
7. Suwannarat P., O'Brien K., Perry M.B., Sebring N., Bernardini I., Kaiser-Kupfer M.I., et al. Use of nitisinone in patients with alkaptonuria. Metabolism 2005 Jun, 54(6):719-728.
8. Montagutelli X., Lalouette A., Coudé M., Kamoun P., Forest M., Guénet J.L. AKU, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16. Genomics 1994, 19:9-11.
9. Manning K., Fernández-Cañón J.M., Montagutelli X., Grompe M. Identification of the mutation in the alkaptonuria mouse model. Mutations in brief no. 216. Online. Hum Mutat 1999, 13(2):171.
10. Mitchell G.A., Grompe M., Lambert M., Tanguay R.M. The Metabolic Basis of Inherited Disease 1999, Volume I:1077-1106. McGraw-Hill, New York.
11. Grompe M., Lindstedt S., al-Dhalimy M., Kennaway N.G., Papaconstantinou J., Torres-Ramos C.A., et al. Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinemia type I. Nat Genet 1995 Aug, 10(4):453-460.
12. Manning K., Al-Dhalimy M., Finegold M., Grompe M. In vivo suppressor mutations correct a murine model of hereditary tyrosinemia type I. Proc Natl Acad Sci USA 1999 Oct 12, 96(21):11928-11933.
13. Keeling M.E., McClure H.M., Kibler R.F. Alkaptonuria in an orangutan (Pongo pygmaeus). Am J Phys Anthropol 1973 Mar, 38(2):435-438.
14. Bondurant R.E., Henry J.B. Pathogenesis of ochronosis in experimental alkaptonuria in the white rat. Lab Invest 1965 Jan, 14:62-69.
15. Grompe M., al-Dhalimy M., Finegold M., Ou C.N., Burlingame T., Kennaway N.G., et al. Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice. Genes Dev 1993 Jan, 7:2298-2307.
16. Tinti L., Taylor A.M., Santucci A., Wlodarski B., Wilson P.J., Jarvis J.C., et al. Development of an in vitro model to investigate joint ochronosis in alkaptonuria. Rheumatology (Oxford) 2011 Feb, 50(2):271-277.
17. Suzuki Y., Oda K., Yoshikawa Y., Maeda Y., Suzuki T. A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria. J Hum Genet 1999, 44(2):79-84.
18. Kamoun P., Coude M., Forest M., Montagutelli X., Guenet J.L. Ascorbic acid and alkaptonuria. Eur J Pediatr 1992 Feb, 151(2):149.
19. Gaines J.J. The pathology of alkaptonuric ochronosis. Hum Pathol 1989, 20:40-46.
20. Lindeman R.D., Tobin J., Shock N.W. Longitudinal studies on the rate of decline in renal function with age. J Am Geriatr Soc 1985 Apr, 33(4):278-285.
21. Pollak M.R., Chou Y.H., Cerda J.J., Steinmann B., La Du B.N., Seidman J.G., et al. Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat Genet 1993 Oct, 5(2):201-204.
22. Janocha S., Wolz W., Srsen S., Srsnova K., Montagutelli X., Guénet J.L., et al. The human gene for alkaptonuria (AKU) maps to chromosome 3q. Genomics 1994 Jan 1, 19(1):5-8.
23. Fernandez Canon J.M., Penalva M.A. Fungal metabolic model for human type I hereditary tyrosinaemia. Proc Natl Acad Sci USA 1995, 92:9132-9136.