Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pahenu2 mice

Journal of Gene Medicine

Volumn 5, Issue 11, 2003, Pages 984-993

  Harding, Cary O ^a   Neff, Mark ^a   Jones, Kelly ^a   Wild, Krzysztof ^b   Wolff, Jon A ^b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

globin gene; Bone marrow gene therapy; Hyperphenylalanimemia; Inborn erros of metabolism; Phenylalanine hydroxylase; Phenylketonuria

Indexed keywords

LIPOSOME; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN; 5,6,7,8-TETRAHYDROBIOPTERIN; BIOPTERIN; COMPLEMENTARY DNA; DRUG DERIVATIVE; GLOBIN; LUCIFERASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BLOOD SAMPLING; BONE MARROW CELL; CONTROLLED STUDY; DRUG ABSORPTION; DRUG HALF LIFE; DRUG RESPONSE; DRUG TISSUE LEVEL; ENZYME ACTIVITY; ERYTHROPOIESIS; GENE DELIVERY SYSTEM; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSFECTION; GENOTYPE; HOMOZYGOSITY; HYPERPHENYLALANINEMIA; IN VITRO STUDY; LIVER CELL; LIVER HOMOGENATE; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; STATISTICAL ANALYSIS; STATISTICAL SIGNIFICANCE; TRANSGENE; ANIMAL; BONE MARROW; COMPARATIVE STUDY; CROSS BREEDING; DISEASE MODEL; GENETICS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; METABOLISM; PHENYLKETONURIA; PROMOTER REGION; TIME; TRANSGENIC ANIMAL;

ANIMALS; ANIMALS, GENETICALLY MODIFIED; BIOPTERIN; BONE MARROW; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CROSSES, GENETIC; DISEASE MODELS, ANIMAL; DNA, COMPLEMENTARY; GENE EXPRESSION; GLOBINS; HUMANS; LUCIFERASES; MICE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PROMOTER REGIONS (GENETICS); TIME FACTORS; TRANSFECTION; TRANSGENES;

EID: 0346838306     PISSN: 1099498X     EISSN: None     Source Type: Journal    
DOI: 10.1002/jgm.432     Document Type: Article

References (20)

1. Scriver CR, Kaufman S. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In The Metabolic and Molecular Bases of Inherited Disease. Scriver CR, Beaudet AL, Sly WS, Valle D (eds). McGraw-Hill: New York, 2001; 1667-1724.
2. McDonald JD, Bode VC, Dove WF, Shedlovsky A. Pahhph-5: a mouse mutant deficient in phenylalanine hydroxylase. Proc Natl Acad Sci U S A 1990; 87: 1965-1967.
3. Forrester WC, Novak U, Gelinas R, Groudine M. Molecular analysis of the human beta-globin locus activation region. Proc Natl Acad Sci U S A 1989; 86: 5439-5443.
4. de Wet JR, Wood KV, DeLuca M, Helinski DR, Subramani S. Firefly luciferase gene: structure and expression in mammalian cells. Mol Cell Biol 1987; 7: 725-737.
5. Ledley FD, Grenett HE, Dunbar BS, Woo SL. Mouse phenylalanine hydroxylase. Homology and divergence from human phenylalanine hydroxylase. Biochem J 1990; 267: 399-405.
6. Harding CO, Wild K, Chang D, Messing A, Wolff JA. Metabolic engineering as therapy for inborn errors of metabolism - development of mice with phenylalanine hydroxylase expression in muscle. Gene Ther 1998; 5: 677-683.
7. McCaman MW, Robins E. Fluorimetric method for the determination of phenylalanine in serum. J Lab Clin Med 1962; 59 885-890.
8. Ledley FD, Hahn T, Woo SLC. Selection for phenylalanine hydroxylase activity in cells transformed with recombinant retrovirus. Somat Cell Mol Genet 1987; 13: 145-154.
9. Overturf K, Al-Dhalimy M, Tanguay R, et al. Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I. Nature Genet 1996; 12: 266-273.
10. Fukushima T, Nixon JC. Analysis of reduced forms of biopterin in biological tissues and fluids. Anal Biochem 1980; 102: 176-188.
11. Brinster RL, Allen JM, Behringer RR, Gelinas RE, Palmiter RD. Introns increase transcriptional efficiency in transgenic mice. Proc Natl Acad Sci U S A 1988; 85: 836-840.
12. Brinster R, Chen H, Trumbauer M, Yagle M, Palmiter R. Factors affecting the efficiency of introducing foreign genes into mice by microinjecting eggs. Proc Natl Acad Sci U S A 1985; 82: 4438-4442.
13. Christensen R, Kolvraa S, Blaese RM, Jensen TG. Development of a skin-based metabolic sink for phenylalanine by overexpression of phenylalanine hydroxylase and GTP cyclohydrolase in primary human keratinocytes. Gene Ther 2000; 7: 1971-1978.
14. Lin CM, Tan Y, Lee YM, Chang CC, Hsiao KJ. Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by retroviral-mediated gene transfer. J Inherit Metab Dis 1997; 20: 742-754.
15. Fang B, Eisensmith RC, Li XHC, et al. Gene therapy for phenylketonuria: phenotypic correction in a genetically deficient mouse model by adenovirus-mediated hepatic gene therapy. Gene Ther 1994; 1: 247-254.
16. Ricketts C, Jacobs A, Cavill I. Ferrokinetics and erythropoiesis in man: the measurement of effective erythropoiesis, ineffective erythropoiesis and red cell lifespan using 59Fe. Br J Haematol 1975; 31: 65-75.
17. Peters A, Lewis S. Iron Metabolism. In Clinical Nuclear Medicine, Maisey M, Britton K, Gilday D (eds). JB Lippincott Co.: Philadelphia, 1991; 355-361.
18. Christensen HN. Interorgan amino acid nutrition. Physiol Rev 1982; 62: 1193-1233.
19. Winter CG, Christensen HN. Migration of amino acids across the membrane of the human erythrocyte. J Biol Chem 1964; 239: 872-878.
20. Anastasiadis PZ, Kuhn DM, Levine RA. Tetrahydrobiopterin uptake into rat brain synaptosomes, cultured PC12 cells, and rat striatum. Brain Res 1994; 665: 77-84.