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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

PRELP, collagen, and a theory of Hutchinson-Gilford progeria.

Proline/arginine-rich end leucine-rich repeat protein (PRELP) a small leucine-rich proteoglycan (SLRP), binds type I collagen to basement membranes and type II collagen to cartilage. Evidence for lack of binding of collagen in basement membranes and cartilage of Hutchinson-Gilford progeria (HGP) cases suggests PRELP involvement in that disease. PRELP deficiency is able to account for many symptoms of HGP. Moreover, PRELP also accounts for the fact that unlike many other collagen-related diseases, HGP symptoms are not congenital. The appearance of PRELP sometime after the third month of the birth, coincides with the appearance of HGP symptoms. Hutchinson-Gilford progeria has been diagnosed in twins with a chromosomal inversion at, or very near, the site of the PRELP gene.[1]


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