Squitieri Ferdinando, de Yebenes Justo Garcia
IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo and Mendel Institute of Human Genetics, Rome, Italy.
Fundación para Investigaciones Neurológicas, Madrid, Spain.
Drug Des Devel Ther. 2015 Oct 28;9:5827-33. doi: 10.2147/DDDT.S65738. eCollection 2015.
Huntington disease (HD) is a chronic, genetic, neurodegenerative disease for which there is no cure. The main symptoms of HD are abnormal involuntary movements (chorea and dystonia), impaired voluntary movements (ie, incoordination and gait balance), progressive cognitive decline, and psychiatric disturbances. HD is caused by a CAG-repeat expanded mutation in the HTT gene, which encodes the huntingtin protein. The inherited mutation results in the production of an elongated polyQ mutant huntingtin protein (mHtt). The cellular functions of the Htt protein are not yet fully understood, but the functions of its mutant variant are thought to include alteration of gene transcription and energy production, and dysregulation of neurotransmitter metabolism, receptors, and growth factors. The phenylpiperidines pridopidine (4-[3-methanesulfonyl-phenyl]-1-propyl-piperidine; formerly known as ACR16) and OSU6162 ([S]-[-]-3-[3-methane [sulfonyl-phenyl]-1-propyl-piperidine) are members of a new class of pharmacologic agents known as "dopamine stabilizers". Recent clinical trials have highlighted the potential of pridopidine for symptomatic treatment of patients with HD. More recently, the analysis of HD models (ie, in vitro and in mice) highlighted previously unknown effects of pridopidine (increase in brain-derived neurotrophic factor, reduction in mHtt levels, and σ-1 receptor binding and modulation). These additional functions of pridopidine suggest it might be a neuroprotective and disease-modifying drug. Data from ongoing clinical trials of pridopidine will help define its place in the treatment of HD. This commentary examines the available preclinical and clinical evidence regarding the use of pridopidine in HD.
亨廷顿舞蹈症(HD)是一种无法治愈的慢性遗传性神经退行性疾病。HD的主要症状包括异常的不自主运动(舞蹈症和肌张力障碍)、自主运动受损(即不协调和步态平衡问题)、进行性认知衰退以及精神障碍。HD由HTT基因中的CAG重复扩增突变引起,该基因编码亨廷顿蛋白。遗传突变导致产生一种延长的多聚谷氨酰胺突变亨廷顿蛋白(mHtt)。Htt蛋白的细胞功能尚未完全了解,但其突变体的功能被认为包括基因转录和能量产生的改变,以及神经递质代谢、受体和生长因子的失调。苯基哌啶类药物普立多匹定(4-[3-甲磺酰基苯基]-1-丙基哌啶;曾称为ACR16)和OSU6162([S]-[-]-3-[3-甲磺酰基苯基]-1-丙基哌啶)是一类称为“多巴胺稳定剂”的新型药物。最近的临床试验突出了普立多匹定对HD患者进行症状治疗的潜力。最近,对HD模型(即体外和小鼠模型)的分析突出了普立多匹定以前未知的作用(脑源性神经营养因子增加、mHtt水平降低以及σ-1受体结合和调节)。普立多匹定的这些额外功能表明它可能是一种神经保护和疾病修饰药物。正在进行的普立多匹定临床试验数据将有助于确定其在HD治疗中的地位。本评论探讨了有关普立多匹定在HD中应用的现有临床前和临床证据。