Hair dysmorphology in the R6/1 and R6/2 mouse models of Huntington's disease.

Abstract

Huntington's disease (HD), caused by expansion of CAG repeats in the 1st exon of the HTT gene, is a disorder inherited in an autosomal dominant manner. HD symptoms include chorea, behavioral disturbances and cognitive decline. Although it is described as a neurodegenerative disease, due to expression of HTT in all types of cells, peripheral symptoms also occur. R6/1 and R6/2 mouse lines, which demonstrate many different phenotypical disturbances, are among the most commonly used HD animal models. Nevertheless, in this report, we underlined, for the first time, a previously undescribed R6/1 and R6/2 feature, hair dysmorphology. We observed changes in the general view of pelage, as well as specific changes in the shape of hair, assessed under electron microscope (deep cavity and hilly hair surface or concave and convex areas on the long hair axis with an appearance of the hair as flat). Hair diameter was significantly increased in both HD mouse models relative to control animals. Moreover, loosened contact between the scales and loosened scale texture were observed in R6/1 and R6/2. Thus, this study highlighted that the hair morphology might be a useful, noninvasive and simple marker of a widely used HD mouse models, R6/1 and R6/2 lines, particularly in testing effects of potential therapeutics or disease progression.