Sarkar Sovan, Krishna Gauri, Imarisio Sara, Saiki Shinji, O'Kane Cahir J, Rubinsztein David C
Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke's Hospital, Hills Road, Cambridge CB2 0XY, UK.
Hum Mol Genet. 2008 Jan 15;17(2):170-8. doi: 10.1093/hmg/ddm294. Epub 2007 Oct 6.
Huntington's disease (HD) is caused by a polyglutamine expansion mutation in the huntingtin protein that confers a toxic gain-of-function and causes the protein to become aggregate-prone. Aggregate-prone proteins are cleared by macroautophagy, and upregulating this process by rapamycin, which inhibits the mammalian target of rapamycin (mTOR), attenuates their toxicity in various HD models. Recently, we demonstrated that lithium induces mTOR-independent autophagy by inhibiting inositol monophosphatase (IMPase) and reducing inositol and IP3 levels. Here we show that glycogen synthase kinase-3beta (GSK-3beta), another enzyme inhibited by lithium, has opposite effects. In contrast to IMPase inhibition that enhances autophagy, GSK3beta inhibition attenuates autophagy and mutant huntingtin clearance by activating mTOR. In order to counteract the autophagy inhibitory effects of mTOR activation resulting from lithium treatment, we have used the mTOR inhibitor rapamycin in combination with lithium. This combination enhances macroautophagy by mTOR-independent (IMPase inhibition by lithium) and mTOR-dependent (mTOR inhibition by rapamycin) pathways. We provide proof-of-principle for this rational combination treatment approach in vivo by showing greater protection against neurodegeneration in an HD fly model with TOR inhibition and lithium, or in HD flies treated with rapamycin and lithium, compared with either pathway alone.
亨廷顿舞蹈症(HD)由亨廷顿蛋白中的多聚谷氨酰胺扩增突变引起,该突变赋予蛋白毒性功能获得并使其易于聚集。易于聚集的蛋白通过巨自噬清除,雷帕霉素上调此过程,其抑制哺乳动物雷帕霉素靶蛋白(mTOR),在各种HD模型中减轻其毒性。最近,我们证明锂通过抑制肌醇单磷酸酶(IMPase)并降低肌醇和IP3水平诱导mTOR非依赖性自噬。在此我们表明,糖原合酶激酶-3β(GSK-3β),另一种受锂抑制的酶,具有相反的作用。与增强自噬的IMPase抑制相反,GSK3β抑制通过激活mTOR减弱自噬和突变亨廷顿蛋白的清除。为了抵消锂治疗导致的mTOR激活的自噬抑制作用,我们将mTOR抑制剂雷帕霉素与锂联合使用。这种联合通过mTOR非依赖性(锂抑制IMPase)和mTOR依赖性(雷帕霉素抑制mTOR)途径增强巨自噬。我们通过显示与单独的任何一种途径相比,在具有TOR抑制和锂的HD果蝇模型中或在用雷帕霉素和锂处理的HD果蝇中对神经退行性变具有更大的保护作用,为这种合理的联合治疗方法在体内提供了原理证明。