Epidermal Expression of the Truncated Prelamin A Causing Hutchinson-Gilford Progeria Syndrome: Effects on Keratinocytes, Hair, and Skin

    April 2008 in “ Human Molecular Genetics ”
    Yibin Wang, Andrey A. Panteleyev, David M. Owens, Karima Djabali, Colin L. Stewart, Howard J. Worman
    TLDR Progerin affects cell shape but not hair or skin in mice.
    The study examined the effects of progerin, a truncated form of prelamin A linked to Hutchinson-Gilford progeria syndrome, on skin and hair in transgenic mice. Despite significant nuclear shape abnormalities in keratinocytes, the mice showed normal hair growth and skin thickness. Treatment with a farnesyltransferase inhibitor improved nuclear morphology. The study concluded that progerin expression altered keratinocyte nuclear morphology but did not lead to alopecia or skin abnormalities typically seen in human HGPS patients. The research suggested that HGPS-related skin and hair issues might be due to systemic factors or effects on other skin components.
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