Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT)-deficient mouse model

European Journal of Human Genetics

Volumn 22, Issue 10, 2014, Pages 1172-1179

  Tang, Manshu ^a   Siddiqi, Anwer ^b   Witt, Benjamin ^c   Yuzyuk, Tatiana ^c   Johnson, Britt ^d   Fraser, Nisa ^a   Chen, Wyman ^a   Rascon, Rafael ^a   Yin, Xue ^a   Goli, Harish ^b   Bodamer, Olaf A ^d   Lai, Kent ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF FLORIDA   (United States)

^c ARUP LABORATORIES   (United States)

^d UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

classic galactosemia; galactose 1 phosphate uridylyltransferase (GALT); inborn errors of metabolism; mouse model

Indexed keywords

FOLLITROPIN; GALACTOSE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; GLUTATHIONE; GLUTATHIONE DISULFIDE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BLASTOCYST; BODY GROWTH; BRAIN EDEMA; CEREBELLUM; CHEMICAL ANALYSIS; CHIMERA; CONTROLLED STUDY; DIET SUPPLEMENTATION; EMBRYONIC STEM CELL; ENZYME ACTIVITY; FEMALE; GALACTOSEMIA; GRANULAR CELL; HETEROZYGOSITY; HISTOLOGY; HUMAN; INTOXICATION; LETHALITY; LITTER SIZE; LIVE BIRTH; MOUSE; NEWBORN; NONHUMAN; OVARY; OXIDATIVE STRESS; PATHOGENESIS; PHENOTYPIC VARIATION; PREGNANT WOMAN; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN TARGETING; PURKINJE FIBER; SUBFERTILITY; TIME TO PREGNANCY; WEANING; WILD TYPE; ALLELE; ANIMAL; BRAIN; DEFICIENCY; DISEASE MODEL; GENETICS; GENOTYPING TECHNIQUE; HETEROZYGOTE; HOMOZYGOTE; INFERTILITY; KNOCKOUT MOUSE; LACTATION; MALE; METABOLISM;

MUS;

ALLELES; ANIMALS; BRAIN; DISEASE MODELS, ANIMAL; FEMALE; GALACTOSE; GALACTOSEMIAS; GENOTYPING TECHNIQUES; GLUTATHIONE; HETEROZYGOTE; HOMOZYGOTE; INFERTILITY; LACTATION; MALE; MICE; MICE, KNOCKOUT; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 84927078897     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.12     Document Type: Article

References (48)

1. Isselbacher KJ, Anderson EP, Kurahashi K, Kalckar HM: Congenital galactosemia, a single enzymatic block in galactose metabolism. Science 1956; 123: 635-636.
2. Fridovich-Keil JL: Galactosemia: the good, the bad, and the unknown. J Cell Physiol 2006; 209: 701-705.
3. Tyfield L, Reichardt J, Fridovich-Keil J et al: Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Mutat 1999; 13: 417-430.
4. Berry GT, Segal S, Gitzelmann R: Disorders of galactose metabolism; in: Fernandes J, Saudubray M, van den Berghe G, Walter JH (eds) Inborn Metabolic Diseases-Diagnosis and Treatment. Springer-Verlag: New York, 2006; 4th edn.
5. Segal S, Berry GT: Disorders of galactose metabolism; in: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic Basis of Inherited Diseases. McGraw-Hill: New York, 1995; Vol I, pp 967-1000.
6. Leloir LF: The enzymatic transformation of uridine diphosphate glucose into a galactose derivative. Arch Biochem 1951; 33: 186-190.
7. Gitzelmann R: Galactose-1-phosphate in the pathophysiology of galactosemia. Eur J Pediatr 1995; 154: S45-S49.
8. Lai K, Langley SD, Khwaja FW, Schmitt EW, Elsas LJ: GALT deficiency causes UDP-hexose deficit in human galactosemic cells. Glycobiology 2003; 13: 285-294.
9. Kaye CI, Accurso F, La Franchi S et al: Newborn screening fact sheets. Pediatrics 2006; 118: e934-e963.
10. Antshel KM, Epstein IO, Waisbren SE: Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study. Neuropsychology 2004; 18: 658-664.
11. Bosch AM, Grootenhuis MA, Bakker HD, Heijmans HS, Wijburg FA, Last BF: Living with classical galactosemia: health-related quality of life consequences. Pediatrics 2004; 113: e423-e428.
12. Gitzelmann R, Steinmann B: Galactosemia: how does long-term treatment change the outcome? Enzyme 1984; 32: 37-46.
13. Lambert C, Boneh A: The impact of galactosaemia on quality of life-a pilot study. J Inherit Metab Dis 2004; 27: 601-608.
14. Ridel KR, Leslie ND, Gilbert DL: An updated review of the long-term neurological effects of galactosemia. Pediatr Neurol 2005; 33: 153-161.
15. Waggoner DD, Buist NRM, Donnell GN: Long-term prognosis in galactosemia: results of a survey of 350 cases. J Inherit Metab Dis 1990; 13: 802-818.
16. Waggoner D, Buist NRM: Long-term complications in treated galactosemia-175 U.S. cases. Int Pediatr 1993; 8: 97-100.
17. Waisbren SE, Rones M, Read CY, Marsden D, Levy HL: Brief report: predictors of parenting stress among parents of children with biochemical genetic disorders. J Pediatr Psychol 2004; 29: 565-570.
18. Waisbren SE, Albers S, Amato S et al: Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA 2003; 290: 2564-2572.
19. Waisbren S, Potter N, Gordon C et al: The adult galactosemic phenotype. J Inherit Metab Dis 2012; 35: 279-286.
20. Douglas HC, Hawthorne DC: Enzymatic expression and genetic linkage of genes controlling galactose utilization in Saccharomyces. Genetics 1964; 49: 837-844.
21. Douglas HC, Hawthorne DC: Regulation of genes controlling synthesis of the galactose pathway enzymes in yeast. Genetics 1966; 54: 911-916.
22. Leslie ND, Yager KL, McNamara PD, Segal S: A mouse model of galactose-1-phosphate uridyl transferase deficiency. Biochem Mol Med 1996; 59: 7-12.
23. Ning C, Reynolds R, Chen J et al: Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet. Mol Genet Metab 2001; 72: 306-315.
24. Ning C, Reynolds R, Chen J et al: Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency. Pediatr Res 2000; 48: 211-217.
25. Kushner RF, Ryan EL, Sefton JM et al: A Drosophila melanogaster model of classic galactosemia. Dis Model Mech 2010; 3: 618-627.
26. Li Y, Ptolemy AS, Harmonay L, Kellogg M, Berry GT: Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies. Mol Genet Metab 2011; 102: 33-40.
27. Sies H, Akerboom TP: Glutathione disulfide (GSSG) efflux from cells and tissues. Methods Enzymol 1984; 105: 445-451.
28. Ragueneau S: Early development in mice. IV: quantity and gross composition of milk in five inbred strains. Physiol Behav 1987; 40: 431-435.
29. Bouwman H, Becker PJ, Cooppan RM, Reinecke AJ: Transfer of DDT used in malaria control to infants via breast milk. Bull World Health Organ 1992; 70: 241-250.
30. Bouwman H, Reinecke AJ, Cooppan RM, Becker PJ: Factors affecting levels of DDT and metabolites in human breast milk from Kwazulu. J Toxicol Environ Health 1990; 31: 93-115.
31. Prelusky DB, Veira DM, Trenholm HL, Foster BC: Metabolic fate and elimination in milk, urine and bile of deoxynivalenol following administration to lactating sheep. J Environ Sci Health B 1987; 22: 125-148.
32. Drugs. AAoPCo. Transfer of drugs and other chemicals into human milk. Pediatrics 2001; 108: 776-789.
33. Wilson JT: Transfer of drugs and other chemicals into human milk. Pediatrics 1990; 86: 149-150.
34. Jumbo-Lucioni PP, Hopson ML, Hang D, Liang Y, Jones DP, Fridovich-Keil JL: Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia. Dis Model Mech 2013; 6: 84-94.
35. Lai K, Yin X, Tang M, Baffoe S, Johnson B, Bodamer O: Galactose-induced lethality and growth retardation in a new galactose-1-phosphate uridyltransferase (GALT) geneknockout mouse model; in: McCabe ERB (ed) Annual Meeting for Society for Inherited Metabolic Disorders. Elsevier: Charlotte, NC, 2012, p 330.
36. Gnoth C, Godehardt E, Frank-Herrmann P, Friol K, Tigges J, Freundl G: Definition and prevalence of subfertility and infertility. Hum Reprod 2005; 20: 1144-1147.
37. Ross KL, Davis CN, Fridovich-Keil JL: Differential roles of the Leloir pathway enzymes and metabolites in defining galactose sensitivity in yeast. Mol Genet Metab 2004; 83: 103-116.
38. Slepak T, Tang M, Addo F, Lai K: Intracellular galactose-1-phosphate accumulation leads to environmental stress response in yeast model. Mol Genet Metab 2005; 86: 360-371.
39. Lai KW, Cheng LY, Cheung AL, WS O: Inhibitor of apoptosis proteins and ovarian dysfunction in galactosemic rats. Cell Tissue Res 2003; 311: 417-425.
40. Liu G, Shi F, Blas-Machado U et al: Dietary galactose inhibits GDF-9 mediated follicular development in the rat ovary. Reprod Toxicol 2006; 21: 26-33.
41. Halperin J, Devi SY, Elizur S et al: Prolactin signaling through the short form of its receptor represses forkhead transcription factor FOXO3 and its target gene galt causing a severe ovarian defect. Mol Endocrinol 2008; 22: 513-522.
42. Levy HL, Sepe SJ, Shih VE, Vawter GF, Klein JO: Sepsis due to Escherichia coli in neonates with galactosemia. N Engl J Med 1977; 297: 823-825.
43. Kelly S: Septicemia in galactosemia. JAMA 1971; 216: 330.
44. Takci S, Kadayifcilar S, Coskun T, Yigit S, Hismi B: A rare galactosemia complication: vitreous hemorrhage. JIMD Rep 2012; 5: 89-93.
45. Levy HL, Brown AE, Williams SE, de Juan E Jr: Vitreous hemorrhage as an ophthalmic complication of galactosemia. J Pediatr 1996; 129: 922-925.
46. Raju TS, Briggs JB, Borge SM, Jones AJ: Species-specific variation in glycosylation of IgG: evidence for the species-specific sialylation and branch-specific galactosylation and importance for engineering recombinant glycoprotein therapeutics. Glycobiology 2000; 10: 477-486.
47. Snouwaert JN, Brigman KK, Latour AM et al: An animal model for cystic fibrosis made by gene targeting. Science 1992; 257: 1083-1088.
48. Hodges CA, Cotton CU, Palmert MR, Drumm ML: Generation of a conditional null allele for Cftr in mice. Genesis 2008; 46: 546-552.