Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts

Journal of Clinical Investigation

Volumn 103, Issue 5, 1999, Pages 723-729

  Stagg, Amy R ^a   Fleming, Judith C ^a   Baker, Meghan A ^a   Sakamoto, Massayuki ^a   Cohen, Nadine ^b   Neufeld, Ellis J ^a,c  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c Division of Hematology   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; THIAMINE; THIAMINE TRANSPORTER; UNCLASSIFIED DRUG;

APOPTOSIS; ARTICLE; CLINICAL FEATURE; DIABETES MELLITUS; DISEASE ASSOCIATION; FIBROBLAST; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; MEGALOBLASTIC ANEMIA; PATHOPHYSIOLOGY; PRIORITY JOURNAL; VITAMIN METABOLISM;

EID: 0033105776     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI3895     Document Type: Article

References (21)

1. Rogers, L.E., Porter, F.S., and Sidbury, J.B.J. 1969. Thiamine-responsive megaloblasric anemia. J. Pediatr. 74:494-504.
2. Neufeld, E.J., et al. 1997. Localization of the gene for thiamine-responsive megaloblastic anemia syndrome on the long arm of chromosome 1 by homozygosity mapping. Am. J. Hum. Genet. 61:1335-1341.
3. Raz, T., et al. 1998. Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome in a 4 cM region and evidence for genetic homogeneity. Hum. Genet. 103:455-461.
4. Rotoli, B., Poggi, V., De Renzo, A., and Robledo, R. 1986. In vitro addition of thiamin does not restore BFU-E growth in thiamin-responsive anemia syndrome. Haematologica. 71:441-443.
5. Poggi, V., et al. 1984. Thiamin-responsive megaloblastic anaemia: a disorder of thiamin transport? J. Inherit. Metab. Dis. 7:153-154.
6. Rindi, G., and Ferrari, G. 1977. Thiamine transport by human intestine in vitro. Experientia. 33:211-213.
7. Hayumpa, A.M., Jr., et al. 1982. Dual system of intestinal thiamine transport in humans. J. Lab. Clin. Med. 99:701-708.
8. Laforenza, U., et al. 1997. Thiamine uptake in human intestinal biopsy specimens, including observations from a patient with acute thiamine deficiency. Am. J. Clin. Nutr. 66:320-326.
9. Rindi, G., et al. 1992. Thiamine transport by erythrocytes and ghosts in thiamine-responsive megaloblastic anaemia. J. Inherit. Metab. Dis. 15:231-242.
10. Rindi, G., et al. 1994. Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia. J. Inherit. Metab. Dis. 17:667-677.
11. Abboud, M.R., Alexander, D., and Najjar, S.S. 1985. Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity. J. Pediatr. 107:537-541.
12. Borgna-Pignatti, C., Marradi, P., Pinelli, L., Monetti, N., and Patrini, C. 1989. Thiamine-responsive anemia in DIDMOAD syndrome. J. Pediatr. 114:405-410.
13. Grill, J., et al. 1991. Thiamine responsive anemia: report of a new case associated with a thiamine pyrophosphokinase deficiency. Nouv. Rev. Fr. Hematol. 33:543-544.
14. Poggi, V., et al. 1989. Studies on thiamine metabolism in thiamine-responsive megaloblastic anaemia. Eur. J. Pediatr. 148:307-311.
15. Enjo, F., Nosaka, K., Ogata, M., Iwashima, A., and Nishimura, H. 1997. Isolation and characterization of a thiamin transport gene, THI10, from Saccharomyces cerevisiae. J. Biol. Chem. 272:19165-19170.
16. Singleton, C.K. 1997. Identification and characterization of the thiamine transporter gene of Saccharomyces cerevisiae. Gene. 199:111-121.
17. Hansen, T.L. 1982. Determination of pyruvate dehydrogenase in cultured human fibroblasts and amniotic fluid cells. Clin. Chim. Acta. 123:45-50.
18. + antiport mechanism for thiamine entry into brush border membrane vesicles from rat small intestine. J. Membr. Biol. 161:151-161.
19. Mandel, H., Berant, M., Hazani, A., and Naveh, Y. 1984. Thiamine-dependent beriberi in the "thiamine-responsive anemia syndrome." N. Engl. J. Med. 311:836-838.
20. Matsushima, K., MacManus, J.P., and Hakim, A.M. 1997. Apoptosis is restricted to the thalamus in thiamine-deficient rats. Neuroreport. 8:867-870.
21. Mignotte, B., and Vayssiere, J.L. 1998. Mitochondria and apoptosis. Eur. J. Biochem. 252:1-15.