Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2)

Molecular Genetics and Metabolism

Volumn 105, Issue 4, 2012, Pages 652-657

  Nabokina, Svetlana M ^a,b   Subramanian, Veedamali S ^a,b   Said, Hamid M ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b VA LONG BEACH HEALTHCARE SYSTEM   (United States)

Author keywords

BVVLS; HRFT 2; Intestine; Riboflavin; Transporter; Uptake

Indexed keywords

CARRIER PROTEIN; MESSENGER RNA; RIBOFLAVIN; RIBOFLAVIN TRANSPORTER 2; UNCLASSIFIED DRUG;

ARTICLE; BROWN VIALETTO VAN LAERE SYNDROME; CELL LEVEL; CELL STRAIN CACO 2; ENDOPLASMIC RETICULUM; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; NEUROLOGIC DISEASE; PRIORITY JOURNAL; RNA TRANSLATION; TRANSIENT EXPRESSION;

BLOTTING, WESTERN; BULBAR PALSY, PROGRESSIVE; CACO-2 CELLS; CELL MEMBRANE; ENDOPLASMIC RETICULUM; HEARING LOSS, SENSORINEURAL; HUMANS; MEMBRANE TRANSPORT PROTEINS; MUTATION, MISSENSE; REAL-TIME POLYMERASE CHAIN REACTION; RIBOFLAVIN; RNA, MESSENGER;

EID: 84858701406     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.12.021     Document Type: Article

References (22)

1. Sathasivam S. Brown-Vialetto-Van Laere syndrome. Orphanet J. Rare Dis. 2008, 3:9.
2. Green P., Wiseman M., Crow Y.J., Houlden H., Riphagen S., Lin J.P., Raymond F.L., Childs A.M., Sheridan E., Edwards S., Josifova D.J. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Am. J. Hum. Genet. 2010, 86:485-489.
3. Johnson J.O., Gibbs J.R., Van Maldergem L., Houlden H., Singleton A.B. Exome sequencing in Brown-Vialetto-van Laere syndrome. Am. J. Hum. Genet. 2010, 87:567-569.
4. Bosch A.M., Abeling N.G., Ijlst L., Knoester H., van der Pol W.L., Stroomer A.E., Wanders R.J., Visser G., Wijburg F.A., Duran M., Waterham H.R. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J. Inherit. Metab. Dis. 2011, 34:159-164.
5. Anand G., Hasan N., Jayapal S., Huma Z., Ali T., Hull J., Blair E., McShane T., Jayawant S. Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. Dev. Med. Child Neurol. 2011, 10.1111/j.1469-8749.2011.04142.x.
6. Subramanian V.S., Rapp L., Marchant J.S., Said H.M. Role of cysteine residues in cell surface expression of the human riboflavin transporter-2 (hRFT-2) in intestinal epithelial cells. Am. J. Physiol. Gastrointest. Liver Physiol. 2011, 301:G100-G109.
7. Fujimura M., Yamamoto S., Murata T., Yasujima T., Inoue K., Ohta K.Y., Yuasa H. Functional characteristics of the human ortholog of riboflavin transporter 2 and riboflavin-responsive expression of its rat ortholog in the small intestine indicate its involvement in riboflavin absorption. J. Nutr. 2010, 140:1722-1727.
8. Yao Y., Yonezawa A., Yoshimatsu H., Masuda S., Katsura T., Inui K.-I. Identification and comparative functional characterization of a new human riboflavin transporter hRFT-3 expressed in the brain. J. Nutr. 2010, 140:1220-1226.
9. Subramanian V.S., Subramanya S.B., Rapp L., Marchant J.S., Ma T.Y., Said H.M. Differential expression of human riboflavin transporters -1, -2, and -3 in polarized epithelia: a key role for hRFT-2 in intestinal riboflavin uptake. Biochim. Biophys. Acta 2011, 1808:3016-3021.
10. Cooperman J.M., Lopez R. Riboflavin. Handbook of Vitamins: Nutritional 1984, 299-327. Biochemical and Clinical Aspects, Dekker, New York. L.J. Machlin (Ed.).
11. Powers H.J. Riboflavin (vitamin B-2) and health. Am. J. Clin. Nutr. 2003, 77:1352-1360.
12. Leshner R.T. Riboflavin deficiency-a reversible neurodegenerative disease. Ann. Neurol. 1981, 10:294-295.
13. Dipti S., Childs A.M., Livingston J.H., Aggarwal A.K., Miller M., Williams C., Crow Y.J. Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. Brain Dev. 2005, 27:443-446.
14. McShane M.A., Boyd S., Harding B., Brett E.M., Wilson J. Progressive bulbar paralysis of childhood. A reappraisal of Fazio-Londe disease. Brain 1992, 115:1889-1900.
15. Said H.M. Recent advances in carrier-mediated intestinal absorption of water-soluble vitamins. Annu. Rev. Physiol. 2004, 66:419-446.
16. Said H.M., Ma T.Y. Mechanism of riboflavine uptake by Caco-2 human intestinal epithelial cells. Am. J. Physiol. 1994, 266:G15-G21.
17. Reidling J.C., Nabokina S.M., Said H.M. Molecular mechanisms involved in the adaptive regulation of human intestinal biotin uptake: a study of the hSMVT system. Am. J. Physiol. Gastrointest. Liver Physiol. 2007, 292:G275-G281.
18. Reidling J.C., Nabokina S.M., Balamurugan K., Said H.M. Developmental maturation of intestinal and renal thiamin uptake: studies in wild-type and transgenic mice carrying human THTR-1 and -2 promoters. J. Cell. Physiol. 2006, 206:371-377.
19. Subramanya S.B., Subramanian V.S., Sekar V.T., Said H.M. Thiamin uptake by pancreatic acinar cells: effect of chronic alcohol feeding/exposure. Am. J. Physiol. Gastrointest. Liver Physiol. 2011, 301:G896-G904.
20. Nabokina S.M., Subramanian V.S., Said H.M. Association of PDZ containing protein PDZD11 with the human sodium-dependent multivitamin transporter. Am. J. Physiol. Gastrointest. Liver Physiol. 2011, 300:G561-G567.
21. Martín M.G., Lostao M.P., Turk E., Lam J., Kreman M., Wright E.M. Compound missense mutations in the sodium/D-glucose cotransporter result in trafficking defects. Gastroenterology 1997, 112:1206-1212.
22. Subramanian V.S., Marchant J.S., Said H.M. Targeting and intracellular trafficking of clinically relevant hTHTR1 mutations in human cell lines. Clin. Sci. (London) 2007, 113:93-102.