Complete Deletion of Slc52a2 Causes Embryonic Lethality in Mice
- 1 February 2021
- journal article
- research article
- Published by Pharmaceutical Society of Japan in Biological & Pharmaceutical Bulletin
- Vol. 44 (2), 283-286
- https://doi.org/10.1248/bpb.b20-00751
Abstract
Riboflavin (vitamin B2) plays an important role in cellular growth and function. Riboflavin transporter 2 (RFVT2) is widely expressed in several tissues, especially in the brain and salivary glands, and plays an important role in the tissue disruption of riboflavin. During the last 10 years, mutations in SLC52A2 have been documented in patients with a rare neurological disorder known as Brown–Vialetto–Van Laere syndrome. However, no suitable animal model of this disease has been reported. Here, we aimed to clarify the physiological role of RFVT2 using Slc52a2-mutant mice. The appearance, body weight, and plasma riboflavin concentration of Slc52a2 heterozygous mutant (Slc52a2+/−) mice were similar to those of wild-type (WT) mice. However, intercrossing between Slc52a2+/− mice failed to generate Slc52a2 homozygous mutant (Slc52a2−/−) mice. This suggested that Slc52a2 gene deficiency results in early embryonic lethality. Our findings suggested that RFVT2 is essential for growth and development, and its deletion may influence embryonic survival.Keywords
This publication has 13 references indexed in Scilit:
- Disruption of Slc52a3 gene causes neonatal lethality with riboflavin deficiency in miceScientific Reports, 2016
- Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experienceJournal of Inherited Metabolic Disease, 2016
- Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2Brain, 2013
- Involvement of riboflavin transporter RFVT2/Slc52a2 in hepatic homeostasis of riboflavin in miceEuropean Journal of Pharmacology, 2013
- Novel riboflavin transporter family RFVT/SLC52: Identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52Molecular Aspects of Medicine, 2013
- Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown‐Vialetto‐Van Laere syndromeJournal of Inherited Metabolic Disease, 2012
- Riboflavin in Development and Cell FateSubcellular Biochemistry, 2011
- Identification and Comparative Functional Characterization of a New Human Riboflavin Transporter hRFT3 Expressed in the BrainJournal of Nutrition, 2010
- Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54American Journal of Human Genetics, 2010
- Current perspectives on the cellular uptake and trafficking of riboflavinAdvanced Drug Delivery Reviews, 2003