In:
Gene Regulation and Systems Biology, SAGE Publications, Vol. 3 ( 2009-01), p. GRSB.S2594-
Abstract:
Hereditaiy 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 Hereditaiy Inclusion Body Myopathy and move therapeutic agents towards clinical trials.
Type of Medium:
Online Resource
ISSN:
1177-6250
,
1177-6250
Language:
English
Publisher:
SAGE Publications
Publication Date:
2009
detail.hit.zdb_id:
2383407-9
