Hereditary Inclusion Body Myopathy (HIBM2)

作者：Chris M. Jay, Nick Levonyak, Gregory A. Nemunaitis, Phillip B. Maples, John J. Nemunaitis · 发表于：Gene Regulation and Systems Biology · 年份：2009 · DOI：10.4137/grsb.s2594 · 被引用次数：14 · 研究领域：Inflammatory Myopathies and Dermatomyositis、Ion channel regulation and function、Muscle Physiology and Disorders

Hereditary inclusion body myopathy type 2 (HIBM2) is a myopathy characterized by progressive muscle weakness with early adult onset. The disease is the result of a recessive mutation in the Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene (GNE), which results in reduced enzyme function and sialic acid levels. A majority of individuals with HIBM2 are from Iranian-Jewish or Japanese decent, but isolated cases have been identified world wide. This article reviews the diagnostic criteria for HIBM2. Current research with a highlight on the biology of the disease and the role of GNE in the sialic acid pathway are assessed. Finally, therapeutic investigations and animal models are discussed with a focus on future studies to better understand the pathology of Hereditary Inclusion Body Myopathy and move therapeutic agents towards clinical trials.