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J Inherit Metab Dis. 2016 Jul;39(4):545-57. doi: 10.1007/s10545-016-9950-0. Epub 2016 Jun 6.

Riboflavin transport and metabolism in humans.

Author information

1
Dipartimento di Bioscienze, Biotecnologie e Biofarmaceutica, Università degli Studi di Bari "Aldo Moro", via Orabona 4, I-70126, Bari, Italy. maria.barile@uniba.it.
2
Dipartimento di Bioscienze, Biotecnologie e Biofarmaceutica, Università degli Studi di Bari "Aldo Moro", via Orabona 4, I-70126, Bari, Italy.
3
Dipartimento DiBEST (Biologia, Ecologia, Scienze della Terra), Unità di Biochimica e Biotecnologie Molecolari, Università della Calabria, via Bucci 4c, I-87036, Arcavacata di Rende, Italy.

Abstract

Recent studies elucidated how riboflavin transporters and FAD forming enzymes work in humans and create a coordinated flavin network ensuring the maintenance of cellular flavoproteome. Alteration of this network may be causative of severe metabolic disorders such as multiple acyl-CoA dehydrogenase deficiency (MADD) or Brown-Vialetto-van Laere syndrome. A crucial step in the maintenance of FAD homeostasis is riboflavin uptake by plasma and mitochondrial membranes. Therefore, studies on recently identified human plasma membrane riboflavin transporters are presented, together with those in which still unidentified mitochondrial riboflavin transporter(s) have been described. A main goal of future research is to fill the gaps still existing as for some transcriptional, functional and structural details of human FAD synthases (FADS) encoded by FLAD1 gene, a novel "redox sensing" enzyme. In the frame of the hypothesis that FADS, acting as a "FAD chaperone", could play a crucial role in the biogenesis of mitochondrial flavo-proteome, several basic functional aspects of flavin cofactor delivery to cognate apo-flavoenzyme are also briefly dealt with. The establishment of model organisms performing altered FAD homeostasis will improve the molecular description of human pathologies. The molecular and functional studies of transporters and enzymes herereported, provide guidelines for improving therapies which may have beneficial effects on the altered metabolism.

PMID:
27271694
DOI:
10.1007/s10545-016-9950-0
[Indexed for MEDLINE]

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