Malicdan M C V, Noguchi S, Nishino I
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan.
Acta Myol. 2007 Dec;26(3):171-5.
Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (hIBM) is an adult onset slowly progressive myopathy secondary to mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene that encodes a bifunctional enzyme which catalyzes the rate-limiting step in sialic acid biosynthesis. Many hypotheses have been proposed to explain why patients develop weakness and atrophy, but are most views are obscure and thus are still considered controversial, partly because of the lack of an appropriate model with which these theories could be clarified. In this review, we briefly summarize the progress in DMRV research, and highlight efforts of researchers in generating the animal model for this myopathy.
伴有镶边空泡的远端肌病（DMRV）或遗传性包涵体肌病（hIBM）是一种成人起病的缓慢进行性肌病，继发于UDP-N-乙酰葡糖胺2-表异构酶/N-乙酰甘露糖胺激酶（GNE）基因突变，该基因编码一种双功能酶，催化唾液酸生物合成中的限速步骤。人们提出了许多假说来解释患者为何会出现肌无力和萎缩，但大多数观点都不明确，因此仍存在争议，部分原因是缺乏一个合适的模型来阐明这些理论。在这篇综述中，我们简要总结了DMRV研究的进展，并强调了研究人员为生成这种肌病的动物模型所做的努力。
