A20 Adipose Tissue Alterations In Huntington´s Disease

2014 
Traditionally, Huntington9s disease (HD) pathology has been considered to arise from degeneration of basal ganglia and cortex. However, the causative mutant huntingtin protein is expressed in cells and tissue throughout the body, and peripheral pathology is evident early in the disease. Changes in gene expression in brain as well as and peripheral tissues, have been shown in human HD as well as in HD mice. Despite weight loss, there is an enhanced accumulation of body fat in mid-life in several HD mouse models. This altered body composition has been shown to be accompanied by dysfunctional white adipocytes and defective brown adipose tissue thermogenesis. HD mouse white adipose tissue abnormalities have been shown to be progressive and to occur alongside impaired expression of mature adipocyte genes. We have now conducted a gene expression analysis of human adipose tissue and the results suggest alterated gene expression in fatty acid metabolism pathways, angiotensin signalling pathways and immune pathways in HD adipose tissue. Possibly, HD peripheral tissue studies, and adipose tissue investigations, could contributed to our understanding of molecular mechanisms through which mutant HTT leads to cell dysfunction and further, could be used to identify HD-related gene expression signatures.
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