Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes

Journal of Inherited Metabolic Disease

Volumn 38, Issue 3, 2015, Pages 511-519

  Chou, Janice Y ^a,c   Jun, Hyun Sik ^a   Mansfield, Brian C ^a,b  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b Foundation Fighting Blindness   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIPORTER; GLUCOSE 6 PHOSPHATASE; GLUCOSE 6-PHOSPHATE(TRANSPORTER); GLUCOSE TRANSPORTER; GRANULOCYTE COLONY STIMULATING FACTOR;

ANIMAL; BIOLOGICAL MODEL; DOG; GENE THERAPY; GENETICS; GLYCOGEN STORAGE DISEASE TYPE I; HOMEOSTASIS; HUMAN; MOUSE; PHENOTYPE; PROCEDURES;

ANIMALS; ANTIPORTERS; DOGS; GENETIC THERAPY; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; GRANULOCYTE COLONY-STIMULATING FACTOR; HOMEOSTASIS; HUMANS; MICE; MODELS, BIOLOGICAL; MONOSACCHARIDE TRANSPORT PROTEINS; PHENOTYPE;

EID: 84939891765     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9772-x     Document Type: Article

References (52)

1. Annabi B, Hiraiwa H, Mansfield BC et al (1998) The gene for glycogen-storage disease type 1b maps to chromosome 11q23. Am J Hum Genet 62(2):400–405
2. Banka S, Newman WG (2013) A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations. Orphanet J Rare Dis 8:84
3. Boers SJ, Visser G, Smit PG, Fuchs SA (2014) Liver transplantation in glycogen storage disease type I. Orphanet J Rare Dis 9(1):47
4. Boztug K, Appaswamy G, Ashikov A et al (2009) A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 360(1):32–43
5. Chen LY, Shieh JJ, Lin B et al (2003) Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter. Hum Mol Genet 12(19):2547–2558
6. Chen SY, Pan CJ, Nandigama K, Mansfield BC, Ambudkar SV, Chou JY (2008) The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic. FASEB J 22(7):2206–2213
7. Cheung YY, Kim SY, Yiu WH et al (2007) Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-beta. J Clin Invest 117(3):784–793
8. Chou JY, Mansfield BC (2008) Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease. Hum Mutat 29(7):921–930
9. Chou JY, Mansfield BC (2011) Recombinant AAV-directed gene therapy for type I glycogen storage diseases. Expert Opin Biol Ther 11(8):1011–1024
10. Chou JY, Mansfield BC (2014) The SLC37 family of sugar-phosphate/phosphate exchangers. Curr Top Membr 73:357–382
11. Chou JY, Matern D, Mansfield BC, Chen YT (2002) Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Curr Mol Med 2(2):121–143
12. Chou JY, Jun HS, Mansfield BC (2010) Glycogen storage disease type I and G6Pase-beta deficiency: etiology and therapy. Nat Rev Endocrinol 6(12):676–688
13. Ekstein J, Rubin BY, Anderson SL et al (2004) Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. Am J Med Genet A 129A(2):162–164
14. Franco LM, Krishnamurthy V, Bali D et al (2005) Hepatocellular carcinoma in glycogen storage disease type Ia: a case series. J Inherit Metab Dis 28(2):153–162
15. Gerin I, Veiga-da-Cunha M, Achouri Y, Collet JF, Van Schaftingen E (1997) Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. FEBS Lett 419(2–3):235–238
16. Ghosh A, Shieh JJ, Pan CJ, Sun MS, Chou JY (2002) The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis. J Biol Chem 277(36):32837–32842
17. Ghosh A, Shieh JJ, Pan CJ, Chou JY (2004) Histidine 167 is the phosphate acceptor in glucose-6-phosphatase-beta forming a phosphohistidine enzyme intermediate during catalysis. J Biol Chem 279(13):12479–12483
18. Hiraiwa H, Pan CJ, Lin B, Moses SW, Chou JY (1999) Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. J Biol Chem 274(9):5532–5536
19. Jun HS, Lee YM, Cheung YY et al (2010) Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase-beta-deficient neutrophils in a congenital neutropenia syndrome. Blood 116(15):2783–2792
20. Jun HS, Lee YM, Song KD, Mansfield BC, Chou JY (2011) G-CSF improves murine G6PC3-deficient neutrophil function by modulating apoptosis and energy homeostasis. Blood 117(14):3881–3892
21. Jun HS, Cheung YY, Lee YM, Mansfield BC, Chou JY (2012) Glucose-6-phosphatase-beta, implicated in a congenital neutropenia syndrome, is essential for macrophage energy homeostasis and functionality. Blood 119(17):4047–4055
22. Jun HS, Weinstein DA, Lee YM, Mansfield BC, Chou JY (2014) Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib. Blood in press
23. Kilpatrick L, Garty BZ, Lundquist KF et al (1990) Impaired metabolic function and signaling defects in phagocytic cells in glycogen storage disease type 1b. J Clin Invest 86(1):196–202
24. Kim SY, Jun HS, Mead PA, Mansfield BC, Chou JY (2008) Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib. Blood 111(12):5704–5711
25. Koeberl DD, Pinto C, Sun B et al. (2008) AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia. Mol Ther 16(4):665–672
26. Kishnani PS, Faulkner E, VanCamp S et al (2001) Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia). Vet Pathol 38(1):83–91
27. Koeberl DD, Kishnani PS, Bali D, Chen YT (2009) Emerging therapies for glycogen storage disease type I. Trends Endocrinol Metab 20:252–258
28. Kuijpers TW, Maianski NA, Tool AT et al (2003) Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b). Blood 101(12):5021–5024
29. Lee YM, Jun HS, Pan CJ et al (2012) Prevention of hepatocellular adenoma and correction of metabolic abnormalities in murine glycogen storage disease type Ia by gene therapy. Hepatology 56(5):1719–1729
30. Lee YM, Pan CJ, Koeberl DD, Mansfield BC, Chou JY (2013) The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia. Mol Genet Metab 110(3):275–280
31. Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY (1993) Mutations in the glucose-6-phosphatase gene that cause glycogen-storage-disease type-1a. Science 262(5133):580–583
32. Lei KJ, Chen H, Pan CJ et al (1996) Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse. Nat Genet 13(2):203–209
33. Lin B, Pan CJ, Chou JY (2000) Human variant glucose-6-phosphate transporter is active in microsomal transport. Hum Genet 107(5):526–529
34. Martin CC, Oeser JK, Svitek CA, Hunter SI, Hutton JC, O'Brien RM (2002) Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein. J Mol Endocrinol 29(2):205–222
35. Matern D, Seydewitz HH, Bali D, Lang C, Chen YT (2002) Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. Eur J Pediatr 161(Suppl 1):S10–S19
36. McCawley LJ, Korchak HM, Cutilli JR et al (1993) Interferon-gamma corrects the respiratory burst defect in vitro in monocyte-derived macrophages from glycogen storage disease type 1b patients. Pediatr Res 34(3):265–269
37. McDermott DH, De Ravin SS, Jun HS et al (2010) Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. Blood 116(15):2793–2802
38. Michelfelder S, Trepel M (2009) Adeno-associated viral vectors and their redirection to cell-type specific receptors. Adv Genet 67:29–60
39. Mutel E, Abdul-Wahed A, Ramamonjisoa N et al (2011) Targeted deletion of liver glucose-6 phosphatase mimics glycogen storage disease type 1a including development of multiple adenomas. J Hepatol 54(3):529–537
40. Pan CJ, Lei KJ, Annabi B, Hemrika W, Chou JY (1998) Transmembrane topology of glucose-6-phosphatase. J Biol Chem 273(11):6144–6148
41. Pan CJ, Lin B, Chou JY (1999) Transmembrane topology of human glucose 6-phosphate transporter. J Biol Chem 274(20):13865–13869
42. Peng WT, Pan CJ, Lee EJ, Westphal H, Chou JY (2009) Generation of mice with a conditional allele for G6pc. Genesis 47(9):590–594
43. Pierre G, Chakupurakal G, McKiernan P et al (2008) Bone marrow transplantation in glycogen storage disease type 1b. J Pediatr 152(2):286–288
44. Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP (2002) Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr 161(Suppl 1):S20–S34
45. Rocca CJ, Ur SN, Harrison F, Cherqui S (2014) rAAV9 combined with renal vein injection is optimal for kidney-targeted gene delivery: conclusion of a comparative study. Gene Ther 21(6):618–628
46. Shah KK, O'Dell SD (2013) Effect of dietary interventions in the maintenance of normoglycaemia in glycogen storage disease type 1a: a systematic review and meta-analysis. J Hum Nutr Diet 26(4):329–339
47. Shieh JJ, Terzioglu M, Hiraiwa H et al (2002) The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase. J Biol Chem 277(7):5047–5053
48. Shieh JJ, Pan CJ, Mansfield BC, Chou JY (2003) A glucose-6-phosphate hydrolase, widely expressed outside the liver, can explain age-dependent resolution of hypoglycemia in glycogen storage disease type Ia. J Biol Chem 278(47):47098–47103
49. Visser G, Rake JP, Labrune P et al (2002) Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1. Eur J Pediatr 161(Suppl 1):S83–S87
50. Weinstein DA, Correia CE, Conlon T et al (2010) Adeno-associated virus-mediated correction of a canine model of glycogen storage disease type Ia. Hum Gene Ther 21(7):903–910
51. Yiu WH, Lee YM, Peng WT et al (2010) Complete normalization of hepatic G6PC deficiency in murine glycogen storage disease type Ia using gene therapy. Mol Ther 18(6):1076–1084
52. Zincarelli C, Soltys S, Rengo G, Rabinowitz JE (2008) Analysis of AAV serotypes 1–9 mediated gene expression and tropism in mice after systemic injection. Mol Ther 16(6):1073–1080