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PRELP, collagen, and a theory of Hutchinson-Gilford progeria.
Ageing Research Reviews ( IF 12.5 ) Pub Date : 2002-11-20 , DOI: 10.1016/s1568-1637(02)00044-2
Marc Lewis 1
Affiliation  

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.

中文翻译:

PRELP,胶原蛋白和Hutchinson-Gilford早衰症的理论。

富含脯氨酸/精氨酸的末端富含亮氨酸的重复蛋白(PRELP)是一种富含亮氨酸的小蛋白聚糖(SLRP),将I型胶原蛋白与基底膜结合,II型胶原蛋白与软骨结合。Hutchinson-Gilford早衰症(HGP)病例缺乏基底膜胶原蛋白结合和软骨的证据,表明PRELP参与了该疾病。PRELP缺乏症可以解释HGP的许多症状。此外,PRELP还解释了以下事实:与许多其他胶原蛋白相关疾病不同,HGP症状不是先天性的。出生后第三个月的某个时候,PREPL的出现与HGP症状的出现相吻合。Hutchinson-Gilford早衰症已在双胞胎中被诊断出,该双胞胎在PRELP基因位点处或附近发生染色体倒置。
更新日期:2019-11-01
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