Borrell-Pagès Maria, Canals Josep M, Cordelières Fabrice P, Parker J Alex, Pineda José R, Grange Ghislaine, Bryson Elzbieta A, Guillermier Martine, Hirsch Etienne, Hantraye Philippe, Cheetham Michael E, Néri Christian, Alberch Jordi, Brouillet Emmanuel, Saudou Frédéric, Humbert Sandrine
Institut Curie, CNRS UMR 146, Orsay, France.
J Clin Invest. 2006 May;116(5):1410-24. doi: 10.1172/JCI27607. Epub 2006 Apr 6.
There is no treatment for the neurodegenerative disorder Huntington disease (HD). Cystamine is a candidate drug; however, the mechanisms by which it operates remain unclear. We show here that cystamine increases levels of the heat shock DnaJ-containing protein 1b (HSJ1b) that are low in HD patients. HSJ1b inhibits polyQ-huntingtin-induced death of striatal neurons and neuronal dysfunction in Caenorhabditis elegans. This neuroprotective effect involves stimulation of the secretory pathway through formation of clathrin-coated vesicles containing brain-derived neurotrophic factor (BDNF). Cystamine increases BDNF secretion from the Golgi region that is blocked by reducing HSJ1b levels or by overexpressing transglutaminase. We demonstrate that cysteamine, the FDA-approved reduced form of cystamine, is neuroprotective in HD mice by increasing BDNF levels in brain. Finally, cysteamine increases serum levels of BDNF in mouse and primate models of HD. Therefore, cysteamine is a potential treatment for HD, and serum BDNF levels can be used as a biomarker for drug efficacy.
目前尚无针对神经退行性疾病亨廷顿舞蹈症(HD)的治疗方法。胱胺是一种候选药物,但其作用机制尚不清楚。我们在此表明,胱胺可提高HD患者体内含量较低的含热休克DnaJ蛋白1b(HSJ1b)的水平。HSJ1b可抑制多聚谷氨酰胺亨廷顿蛋白诱导的秀丽隐杆线虫纹状体神经元死亡和神经元功能障碍。这种神经保护作用涉及通过形成含有脑源性神经营养因子(BDNF)的网格蛋白包被小泡来刺激分泌途径。胱胺可增加高尔基体区域的BDNF分泌,而降低HSJ1b水平或过表达转谷氨酰胺酶可阻断这种分泌。我们证明,FDA批准的胱胺还原形式半胱胺,通过提高脑中BDNF水平,对HD小鼠具有神经保护作用。最后,半胱胺可提高HD小鼠和灵长类动物模型血清中BDNF的水平。因此,半胱胺是HD的一种潜在治疗方法,血清BDNF水平可作为药物疗效的生物标志物。