Gene therapy for inherited metabolic disorders in companion animals

ILAR Journal

Volumn 50, Issue 2, 2009, Pages 122-127

  Koeberl, Dwight D ^a   Pinto, Carlos ^b   Brown, Talmage ^b   Chen, Y T ^a,c  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b NORTH CAROLINA STATE UNIVERSITY   (United States)

^c INSTITUTE OF BIOMEDICAL SCIENCES   (Taiwan)

Author keywords

Amino acid metabolism; Gene therapy; Glycogen storage disease; Inborn errors of metabolism; Inherited metabolic disorders; Large animal model; Mitochondrial disorder; Organic acidemia

Indexed keywords

ANIMALIA; CANIS FAMILIARIS;

ANIMAL; CAT; DISEASE MODEL; DOG; GENE THERAPY; GENETICS; INBORN ERROR OF METABOLISM; METHODOLOGY; REVIEW;

ANIMALS; CATS; DISEASE MODELS, ANIMAL; DOGS; GENE THERAPY; METABOLISM, INBORN ERRORS;

EID: 66149144345     PISSN: 10842020     EISSN: None     Source Type: Journal    
DOI: 10.1093/ilar.50.2.122     Document Type: Review

References (29)

1. Abramson CJ, Platt SR, Jakobs C, Verhoeven NM, Dennis R, Garosi L, Shelton GD. 2003. L-2-hydroxyglutaric aciduria in Staffordshire bull terriers. J Vet Intern Med 17:551-556.
2. Beaty RM, Jackson M, Peterson D, Bird A, Brown T, Benjamin DK Jr, Juopperi T, Kishnani P, Boney A, Chen YT, Koeberl DD. 2002. Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors. Gene Ther 9:1015-1022.
3. Blakemore WF, Heath MF, Bennett MJ, Cromby CH, Pollitt RJ. 1988. Primary hyperoxaluria and L-glyceric aciduria in the cat. J Inherit Metab Dis 11 Suppl 2:215-217.
4. Brix AE, Howerth EW, McConkie-Rosell A, Peterson D, Egnor D, Wells MR, Chen YT. 1995. Glycogen storage disease type Ia in two littermate Maltese puppies. Vet Pathol 32:460-465.
5. Cameron JM, Maj MC, Levandovskiy V, MacKay N, Shelton GD, Robinson BH. 2007. Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Mol Genet Metab 90:15-23.
6. Chen YT. 2001. Glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill. p 1521-1551.
7. Chen YT, Coleman RA, Scheinman JI, Kolbeck PC, Sidbury JB. 1988. Renal disease in type I glycogen storage disease. N Engl J Med 318:7-11.
8. De Lorenzi D, Bernardini M, Pumarola M. 2005. Primary hyperoxaluria (L-glyceric aciduria) in a cat. J Feline Med Surg 7:357-361.
9. Fyfe JC, Giger U, Hall CA, Jezyk PF, Klumpp SA, Levine JS, Patterson DF. 1991. Inherited selective intestinal cobalamin malabsorption and cobalamin deficiency in dogs. Pediatr Res 29:24-31.
10. Fyfe JC, Kurzhals RL, Hawkins MG, Wang P, Yuhki N, Giger U, Van Winkle TJ, Haskins ME, Patterson DF, Henthorn PS. 2007. A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and latejuvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats. Mol Genet Metab 90:383-392.
11. Garrod AE. 1902. The incidence of alkaptonuria: A study in chemical individuality. Lancet II:1616-1620.
12. Giger U, Argov Z, Schnall M, Bank WJ, Chance B. 1988. Metabolic myopathy in canine muscle-type phosphofructokinase deficiency. Muscle Nerve 11:1260-1265.
13. Gregory BL, Shelton GD, Bali DS, Chen YT, Fyfe JC. 2007. Glycogen storage disease type IIIa in curly-coated retrievers. J Vet Intern Med 21:40-46.
14. Haskins M. 2009. Gene therapy for lysosomal storage diseases (LSDs) in large animal models. ILAR J 50:112-121.
15. He Q, Madsen M, Kilkenney A, Gregory B, Christensen EI, Vorum H, Hojrup P, Schaffer AA, Kirkness EF, Tanner SM, de la Chapelle A, Giger U, Moestrup SK, Fyfe JC. 2005. Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorptions in vivo. Blood 106:1447-1453.
16. Henthorn PS, Liu J, Gidalevich T, Fang J, Casal ML, Patterson DF, Giger U. 2000. Canine cystinuria: Polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs. Hum Genet 107:295-303.
17. Kishnani PS, Bao Y, Wu JY, Brix AE, Lin JL, Chen YT. 1997. Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: Identification of mutation in puppies with glycogen storage disease type Ia. Biochem Mol Med 61:168-177.
18. Kishnani PS, Faulkner E, VanCamp S, Jackson M, Brown T, Boney A, Koeberl D, Chen YT. 2001. Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia). Vet Pathol 38:83-91.
19. Koeberl DD, Pinto C, Sun B, Li S, Kozink DM, Benjamin DK Jr, Demaster AK, Kruse MA, Vaughn V, Hillman S, Bird A, Jackson M, Brown T, Kishnani PS, Chen YT. 2008. AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia. Mol Ther 16:665-672.
20. Li FY, Cuddon PA, Song J, Wood SL, Patterson JS, Shelton GD, Duncan ID. 2006. Canine spongiform leukoencephalomyelopathy is associated with a missense mutation in cytochrome b. Neurobiol Dis 21:35-42.
21. Penderis J, Calvin J, Abramson C, Jakobs C, Pettitt L, Binns MM, Verhoeven NM, O'Driscoll E, Platt SR, Mellersh CS. 2007. L-2-hydroxyglutaric aciduria: Characterisation of the molecular defect in a spontaneous canine model. J Med Genet 44:334-340.
22. Perlman M, Aker M, Slonim AE. 1979. Successful treatment of severe type I glycogen storage disease with neonatal presentation by nocturnal intragastric feeding. J Pediatr 94:772-774.
23. Scurrell E, Davies E, Baines E, Cherubini GB, Platt S, Blakemore W, Williams A, Schoniger S. 2008. Neuropathological findings in a Staffordshire bull terrier with 1-2-hydroxyglutaric aciduria. J Comp Pathol 138:160-164.
24. Scriver CR, Beaudet AL, Sly WS, Valle D, ed. 2001. The Metabolic and Molecular Bases of Inherited Disease, 8th ed. New York: McGraw-Hill. Sewell AC, Haskins ME, Giger U. 2007. Inherited metabolic disease in companion animals: Searching for nature's mistakes. Vet J 174:252-259.
25. Smith BF, Stedman H, Rajpurohit Y, Henthorn PS, Wolfe JH, Patterson DF, Giger U. 1996. Molecular basis of canine muscle type phosphofructokinase deficiency. J Biol Chem 271:20070-20074.
26. van de Sluis SB, Rothuizen J, Pearson PL, van Oost BA, Wijmenga C. 2002. Identification of a new copper metabolism gene by positional cloning in a purebred dog population. Hum Mol Genet 11:165-173.
27. Walvoort HC, Slee RG, Sluis KJ, Koster JF, Reuser AJ. 1984. Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid alpha-glucosidase deficiency). Am J Med Genet 19:589-598.
28. Walvoort HC, Dormans JA, van den Ingh TS. 1985. Comparative pathology of the canine model of glycogen storage disease type II (Pompe's disease). J Inherit Metab Dis 8:38-46.
29. Wolfsdorf JI, Laffel LM, Crigler JF Jr. 1997. Metabolic control and renal dysfunction in type I glycogen storage disease. J Inherit Metab Dis 20:559-568.