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Sci.Transl.Med.:雷帕霉素或可减缓早衰进展

来源:医学论坛网 2011-07-06 00:08

前沿医学资讯网据Medindia.net报道,研究人员使用雷帕霉素设法减缓哈钦森-Gilford早衰综合症的病情进展,这被证明是治疗该疾病的一项重大突破。

早衰是一种极为罕见的遗传性疾病,目前世界各地患有这种疾病的儿童仅有78名。该疾病患病率为每800万儿童中仅有1名患病,其有像老年的征状。

虽然没有治愈该疾病的方法,但一项发表在《Science Translational Medicine》上的新研究显示,使用雷帕霉素能够减缓该疾病的进展,甚至在一些病例可完全阻止疾病进展。

首席研究员Dimitri Krainc博士希望他们的研究在不久的将来为该疾病的治愈铺平道路。“当细胞内碎片堆积且没有得到消除时,衰老相关的部分问题开始出现,而这种特殊的药物能够增强消除过程。宣称该药可能完全治愈早衰患者,这将是过于乐观,但我们希望这种药物可以使这些孩子生活得更长久且并发症更少,”Krai nc博士说。(生物谷Bioon.com)

生物谷推荐原文出处:

Science Translational Medicine     DOI:10.1126/scitranslmed.3002346

Rapamycin Reverses Cellular Phenotypes and Enhances Mutant Protein Clearance in Hutchinson-Gilford Progeria Syndrome Cells

Kan Cao, John J. Graziotto, Cecilia D. Blair, Joseph R. Mazzulli, Michael R. Erdos, Dimitri Krainc and Francis S. Collins

Hutchinson-Gilford progeria syndrome (HGPS) is a lethal genetic disorder characterized by premature aging. HGPS is most commonly caused by a de novo single-nucleotide substitution in the lamin A/C gene (LMNA) that partially activates a cryptic splice donor site in exon 11, producing an abnormal lamin A protein termed progerin. Accumulation of progerin in dividing cells adversely affects the integrity of the nuclear scaffold and leads to nuclear blebbing in cultured cells. Progerin is also produced in normal cells, increasing in abundance as senescence approaches. Here, we report the effect of rapamycin, a macrolide antibiotic that has been implicated in slowing cellular and organismal aging, on the cellular phenotypes of HGPS fibroblasts. Treatment with rapamycin abolished nuclear blebbing, delayed the onset of cellular senescence, and enhanced the degradation of progerin in HGPS cells. Rapamycin also decreased the formation of insoluble progerin aggregates and induced clearance through autophagic mechanisms in normal fibroblasts. Our findings suggest an additional mechanism for the beneficial effects of rapamycin on longevity and encourage the hypothesis that rapamycin treatment could provide clinical benefit for children with HGPS.

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