Morphological and biochemical characteristics of trichothiodystrophy-variant hair are maintained after grafting of scalp specimens on to nude mice

Abstract

Trichothiodystrophy (TTD) is a hair defect associated with abnormal composition of the high-sulphur proteins (HSP). HSP can be modified quantitatively (reduced amount of qualitatively normal HSP: TTD-variant) and qualitatively (TTD). In this study we show that the amino acid composition of hairs collected from the scalp of a patient with TTD-variant (donor) was preserved in hairs produced by donor scalp follicles maintained up to 6 months as grafts on to nude mice. It is the first time that an exceptionally rare, clinically and biochemically well-characterized hair dysplasia has been maintained under laboratory conditions for a long period of time. The linear growth rate of TTD-variant hairs was similar to that of control hairs grown under comparable conditions. The persistence of disease-specific abnormalities in the hair shaft indicates that the TTD-variant mutation is expressed without significant quantitative modifications, and appears independent of systemic host-related factors. This model may serve as a clinically relevant working platform for evaluating regulation of abnormal gene expression in the hair follicle under well-controlled experimental conditions.