Thiamine-responsive megaloblastic anemia syndrome: A disorder of high-affinity thiamine transport
Thiamine-responsive megaloblastic anemia syndrome: A disorder of high-affinity thiamine transport
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DOI：
10.1006/bcmd.2000.0356
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发表时间：
2001-01-01
影响因子：
2.3
通讯作者：
Steinkamp, MP
中科院分区：
文献类型：
--
作者：
Neufeld, EJ;Fleming, JC;Steinkamp, MP
硫胺素反应性巨幼细胞性贫血综合征(249270号)包括三种不同的临床特征：巨幼细胞性贫血伴环状铁粒母细胞、糖尿病和进行性感觉神经性耳聋。TRMA基因已被定位和克隆。SLC19A2是溶质载体基因超家族的一员，该基因在迄今为止研究的所有TRMA家族中都发生了突变。SLC19A2基因的产物是一种膜蛋白，它以亚微摩尔的亲和力运输硫胺素(维生素BI)。TRMA患者的细胞对纳摩尔范围内的硫胺素耗竭特别敏感，而药物剂量的维生素B1可以改善贫血和糖尿病。在这里，我们回顾了旨在了解这种独特的运输缺陷的病理生理学的研究现状，(C)2001年学术出版社。
Thiamine-responsive megaloblastic anemia (TRMA) syndrome (OMIM No. 249270) comprises a distinctive triad of clinical features: megaloblastic anemia with ringed sideroblasts, diabetes mellitus, and progressive sensorineural deafness. The TRMA gene has been mapped and cloned. Designated "SLC19A2" as a member of the solute carrier gene superfamily, this gene is mutated in all TRMA kindreds studied to date. The product of the SLC19A2 gene is a membrane protein which transports thiamine (vitamin BI) with sub-micromolar affinity. Cells from TRMA patients are uniquely sensitive to thiamine depletion to the nanomolar range, while pharmacologic doses of vitamin B1 ameliorate the anemia and diabetes. Here we review the current status of studies aimed at understanding the pathophysiology of this unique transport defect, (C) 2001 Academic Press.