Defective glucose transport across brain tissue barriers: A newly recognized neurological syndrome

Neurochemical Research

Volumn 24, Issue 4, 1999, Pages 587-594

  Klepper, Jörg ^a   Wang, Dong ^a   Fischbarg, Jorge ^a   Vera, Juan Carlos ^b   Jarjour, Imad T ^c   O'Driscoll, Kevin R ^a   De Vivo, Darryl C ^a,d  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^c DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^d NEUROLOGICAL INSTITUTE   (United States)

Author keywords

Blood brain barrier; DeVivo Disease; Glucose transport; GLUT 1; GTPS

Indexed keywords

3 METHYLGLUCOSE; DEHYDROASCORBIC ACID; GLUCOSE; GLUCOSE TRANSPORTER; THIOCTIC ACID;

ARTICLE; BLOOD BRAIN BARRIER; CASE REPORT; CEREBROSPINAL FLUID LEVEL; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE COURSE; ERYTHROCYTE; FEMALE; GENETIC VARIABILITY; GLIA; GLUCOSE TRANSPORT; HUMAN; MISSENSE MUTATION; NEUROLOGIC DISEASE; ORAL DRUG ADMINISTRATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; TRANSPORT KINETICS;

EID: 0032943723     PISSN: 03643190     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1022544131826     Document Type: Article

References (49)

1. Bell, I.G., Burant, C.F., Takeda, J., and Gould, G.W. 1993. Structure and function of mammalian facultative sugar transporters [review]. J. Biol. Chem. 268:19161-4
2. Bell, I.G., Kayano, T., Buse, J.B., Burant, D.F., Takeda, J., Lin, D., Fukumoto, H., and Seino S. 1990. Molecular biology of mammalian glucose transporters. Diab Care 13:198-208
3. Bimbaum, M.J., Haspel, H.C., and Rosen, O.M. 1986. Cloning and characterization of a cDNA encoding the rat brain glucose transporter protein. Proc. Natl. Acad. Sci. USA 83:5784-5788
4. +/glucose cotransporter. Annu. Rev. Physiol. 55:575-89
5. Baldwin, S.A. 1993. Mammalian passive glucose transporters: members of active and passive transport proteins [review]. Biochim. Biophys. Acta. 1154:17-49
6. Gould, G.W., and Holman, G.D. 1993. The glucose transporter family: structure, function and tissue-specific expression [review]. Biochem. J. 295:329-41
7. Tanaka, K., Hirano, H., and kasahara, M. 1997. Transport of glucose across the blood-tissue barriers. Int. Rev. Cytol. 172:1-52
8. Mueckler, M., Caruso, C., and Baldwin, S.A. et al. Sequence and structure of a human glucose transporter. Science 1985; 228:941-945
9. Pardridge, W.M., Boado, R.J., Farrell, C.R. Brain-type glucose transporter (Glut-1) is selectively localized to the blood-brain-barrier. J. Biol. Chem. 1990;265:18035-40.
10. Chugani, H.T., 1994. Development of regional brain glucose metabolism in relation to behavior and plasticity. In: Dawson G, Fischer, K.W. (ed): human behavior and the developing brain, Guildford Press, New York Ch. 5:153-175
11. Clarke, D.D., and Sokoloff, L. 1994. Circulation and energy metabolism of the brain. In: Siegel G.J. et al (ed). Basic neurochemistry: molecular, cellular and medical aspects. 5th ed:645-748, Raven Press, New York.
12. Cremer, J.E. Substrate Utilization and brain development. J Cerebr Blood Flow Metabol 1982;2:394-407
13. De Vivo, D.C., Trifiletti, R.R., Jacobson, R.I., Ronen, G.M., Behmand, R.A., and Harik, S.I. 1991. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. NEJM 325:703-9
14. De Vivo, D.C., Garcia-Alvarez, M., Ronen, G., and Trifiletti, R. 1995. Glucose transport protein deficiency: an emerging syndrome with therapeutic implications. Int. Fed. 10:51-6
15. Klepper, J., Wang, D., Garcia, Alvarez, M., Hinton, V.J., Nordli, D.R., Jr., O'Driscoll, K.R., and De Vivo, D.C. 1998. GTPS: Defining a new syndrome. Neurology 4;Suppl 4:A6
16. nd ed. McGraw-Hill:84
17. Seidner, G., Garcia-Alvarez, M., Yeh, J.I., O'Driscoll, K., Klepper, J., R., Stump, T.S., Wang, D., Spinner, N.B., Birnbaum, M.J., and De Vivo, D.C. Glut-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nature Gen. 1998;18:1-4
18. Fordtran, J.S., Clodi, P.H., Soergel, M.D., and Ingelfinger, F.J. 1962. Sugar absorption tests, with special reference to 3-O-methyl-d-glucose and d-xylose. Ann. Int. Med. 57:883-91
19. Lowe, A.G., and Walmsley, A.D. 1986. The kinetics of glucose transport in human red blod cells. Biochim. Biophys. Acta. 857:146-54
20. Lowe, A.G., and Walmsley, A.D. 1985. A quenched flow technique for the measurement of glucose influx into human red blood cells. Analytical Biochem. 144:385-9
21. th edition:135
22. Moore, P.A., Preparation of whole blood for liquid scintillation counting. Clin. Chem. 1981;27:609-11
23. Vera, J.C., Rivas C.I., Velasquez, H.V., Zhang R.H., Concha L.I., and Golde D.W. 1995. Resolution of the facilitated transport of dehydroascorbic acid from its reduction-dependent intracellular accumulation. J. Biol. Chem. 270, 23706-23712
24. Fukumoto, H., Seino, S., Imura, H., Seino, Y., Bell, G.I. 1988. Characterization and expression of human HepG2/erythrocyte glucose-transporter gene. Diabetes 37:657-661
25. Hayashi, K., Yandell, D.W. 1993. How sensitive is PCT-SSCP? Human Mutation 2:338-346
26. Yu, F., Warburton, D., Wellington, D., and Danziger, R.S. 1996. Assignment of gene coding for alpha2 subunit of soluble quanylyl cyclase to position 11q21-22 on human chromosome 11. Genomics. 33:334-336
27. Kumagai, A.K., Dwyer K.J., and Pardridge W.M. 1993. Differential glycosylation of the GLUT1 glucose transporter in brain capillaries and choroid plexus. Biochim. Biophys. Acta. 1193:24-30
28. Dick, A.P.K., Harik, S.I., Klip, A., and Walker D.M. 1984. Identification and characterization of the glucose transporter of the blood/brain barrier by cytochalasin B binding and immunological reactivity. Proc. Natl. Acad. Sci. U.S.A. 81:7233-7.
29. Vannucci, S.J., Maher, F., and Simpson, I.A., 1997. Glucose transporter proteins in brain:delivery of glucose to neurons and glia [review], Glia. 21:2-21
30. Hediger, M.A., Coady, M.J., Ikeda T.S., and Wright E.M. 1987. Expression cloning and cDNA sequencing of the Na+/glucose cotransporter. Nature 330:379-381
31. +/glucose cotransporter (SGLT1) trafficking and function cause glucose/galactose malabsorption. Nat. Genet. 12:216-20
32. Maher, R., Vanucci, S.J., Simpson, I.A., Glucose transporter proteins in [review]. FASEB J. 1994;8:1003-11
33. Morgello, S., Uson, R.R., Schwartz, E.J., and Haber, R.S. 1995. The human blood-brain barrier glucose transporter (GLUT1) is a glucose transporter of gray matter astrocytes. Glia. 14:43-54
34. Seatter, M.J., Kane, S., Porter, L.M., Arbuckle, M.I., Melvin, D.R., and Gould, G.W. 1997. Structure-function studies of the brain-type glucose transporter,GLUT3: alanine-scanning mutagenesis of putative transmembrane helix VIII and an investigation of the role of proline residues in transport catalysis. Biochem. 36:6401-6407
35. McGowan, K.M., Long, S.D., and Pekala, P.H. 1995. Glucose transporter gene expression: regulation of transcription and mRNA stablity. Pharmac. Ther.; 66:465-505
36. Klip, A., Tsakiridis, T., Marette, A., Oritz, and P.A. 1994. Regulation of expression of glucose transporters by glucose: a review of studies in vivo and in cell cultures. FASEB 8:43-53
37. De Vivo, D.C., Garcia, Alvarez, M., and Tritschler, H.J., 1996. Deficiency of glucose transporter protein type I: possible therapeutic role for alpha- lipoic acid (thioctic acid). Diabetes und Stoffwechsel 5:36-40
38. Wertheimer, E., Sasson, S., Cerasi, E., and Ben-Neriah, Y. 1991. The ubiquitous glucose transporter GLUT-1 belongs to the glu-cose-regulated protein family of stress-inducible proteins. Proc. Natl. Acad. Sci. USA 88:2525-2529
39. Lawrence, M.S., Sun, G.H., Kunis, D.M., Saydam, T.C., Dash, R., Ho, D.Y., Sapolsky, R.M., and Steinberg, G.K. 1996. Overexpression of the glucose transporter gene with a herpes simplex viral vector protects striatal neurons against stroke. J. Cereb. Blood, flow. Metab. 16:181-85
40. Sofue, M., Yoshimura, Y., Nishida, M., and Kawada, J. 1992. Possible multifunction of glucose transporter. Biochem. J. 288:669-674
41. Fischbarg, J., and Vera, J.C. 1995. Multifunctional transporter models: lessons from the transport of water, sugars, and ring compounds by GLUTs. Am. J. Physiol. 268:C1077-C1089
42. Carruthers, A. 1990. Facilitated diffusion of glucose [review]. Physiol Rev. 70:1135-76
43. Fischbarg, J., Kuang, K., Vera, J.C., Arant, S., Silverstein, S.C., Loike, J., Rosen, O.M. Glucose transporters serve as water channels. Proc. Natl. Acad. Sci. USA (1990) 87:3244-3247
44. Vera, J.C., Rivas, C.I., Fischbarg, J., and Tgolde, D.W. 1993. Mammalian facilitative hexose transporters mediate the transport of dehydroascorbic acid. Nature 364:79-82
45. Agus, D.B., Gambhir, S.S., Pardridge, W.M., Spielholz, C., Baselga, J., Vera, J.C., and Golde, D.W. 1997. Vitamin C crosses the blood-brain barrier in the oxidized form through the glucose transporters. J. Clin. Invest. 100:2842-2848
46. Rumsey, S.C., Kwon, O., Xu, G.W., Burant, C.F., Simpson, I., and Levine, M. Glucose transporter isoforms GLUT1 and GLUT3 transport dehydroascorbic acid. J. Biol. Chem. 1997;272:18982-18989
47. Polt, R., Porreca, F., Szabo, L.Z., Bilsky, E.J., Davis, P., Abbruscato, T.J., Davis, T.P., Horvath, R., Yamamura, H.I., and Hruby, V.J. Glycopeptide enkephalin analogues produce analgesia in mice: evidence for penetration of the blood-brain barrier. Proc. Natl. Acad. Sci. USA 1994; 91:7114-7118
48. Klepper, J., Vera, J.C., De Vivo, D.C. 1998. Deficient transport of dehydroascorbic acid in the glucose transporter protein syndrome. Ann. Neur. 44:286-287.
49. Nordli DR Jr, De Vivo DC. 1997. The ketogenic diet revisited: back to the Future. Epilepsia 38(7):743-749.