Recent advances in riboflavin transporter RFVT and its genetic disease

Congyun Jin, Atsushi Yonezawa

Research output: Contribution to journalReview articlepeer-review

5 Citations (Scopus)

Abstract

Riboflavin (vitamin B2) is essential for cellular growth and function. It is enzymatically converted to flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), which participate in the metabolic oxidation-reduction reactions of carbohydrates, amino acids, and lipids. Human riboflavin transporters RFVT1, RFVT2, and RFVT3 have been identified and characterized since 2008. They are highly specific transporters of riboflavin. RFVT3 has functional characteristics different from those of RFVT1 and RFVT2. RFVT3 contributes to absorption in the small intestine, reabsorption in the kidney, and transport to the fetus in the placenta, while RFVT2 mediates the tissue distribution of riboflavin from the blood. Several mutations in the SLC52A2 gene encoding RFVT2 and the SLC52A3 gene encoding RFVT3 were found in patients with a rare neurological disorder known as Brown-Vialetto-Van Laere syndrome. These patients commonly present with bulbar palsy, hearing loss, muscle weakness, and respiratory symptoms in infancy or later in childhood. A decrease in plasma riboflavin levels has been observed in several cases. Recent studies on knockout mice and patient-derived cells have advanced the understanding of these mechanisms. Here, we summarize novel findings on RFVT1–3 and their genetic diseases and discuss their potential as therapeutic drugs.

Original languageEnglish
Article number108023
JournalPharmacology and Therapeutics
Volume233
DOIs
Publication statusPublished - 2022 May
Externally publishedYes

Keywords

  • Brown-Vialetto-Van Laere syndrome
  • Genetic diseases
  • Riboflavin transporter

ASJC Scopus subject areas

  • Pharmacology
  • Pharmacology (medical)

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