Department of Clinical Pharmacology and Therapeutics, Kyoto University Hospital.
Graduate School of Pharmaceutical Sciences, Kyoto University.
Biol Pharm Bull. 2021;44(2):283-286. doi: 10.1248/bpb.b20-00751.
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.
核黄素（维生素 B2）在细胞生长和功能中起着重要作用。核黄素转运蛋白 2（RFVT2）在多种组织中广泛表达，特别是在大脑和唾液腺中，在核黄素的组织破坏中起着重要作用。在过去的 10 年中，SLC52A2 中的突变已在一种称为 Brown-Vialetto-Van Laere 综合征的罕见神经疾病患者中被记录。然而，尚未报道这种疾病的合适动物模型。在这里，我们旨在使用 Slc52a2 突变小鼠阐明 RFVT2 的生理作用。Slc52a2 杂合突变（Slc52a2+/-）小鼠的外观，体重和血浆核黄素浓度与野生型（WT）小鼠相似。然而，Slc52a2+/- 小鼠的杂交未能产生 Slc52a2 纯合突变（Slc52a2-/-）小鼠。这表明 Slc52a2 基因缺失导致早期胚胎致死。我们的研究结果表明，RFVT2 对生长和发育至关重要，其缺失可能会影响胚胎的存活。
