Behavioural Neuroscience Division, Florey Institute of Neuroscience and Mental Health, University of Melbourne , Parkville, VIC , Australia.
Front Neurol. 2013 Jul 9;4:81. doi: 10.3389/fneur.2013.00081. eCollection 2013.
Huntington's disease (HD) is an autosomal dominant disorder caused by a tandem repeat expansion encoding an expanded tract of glutamines in the huntingtin protein. HD is progressive and manifests as psychiatric symptoms (including depression), cognitive deficits (culminating in dementia), and motor abnormalities (including chorea). Having reached the twentieth anniversary of the discovery of the "genetic stutter" which causes HD, we still lack sophisticated insight into why so many HD patients exhibit affective disorders such as depression at very early stages, prior to overt appearance of motor deficits. In this review, we will focus on depression as the major psychiatric manifestation of HD, discuss potential mechanisms of pathogenesis identified from animal models, and compare depression in HD patients with that of the wider gene-negative population. The discovery of depressive-like behaviors as well as cellular and molecular correlates of depression in transgenic HD mice has added strong support to the hypothesis that the HD mutation adds significantly to the genetic load for depression. A key question is whether HD-associated depression differs from that in the general population. Whilst preclinical studies, clinical data, and treatment responses suggest striking similarities, there are also some apparent differences. We discuss various molecular and cellular mechanisms which may contribute to depression in HD, and whether they may generalize to other depressive disorders. The autosomal dominant nature of HD and the existence of models with excellent construct validity provide a unique opportunity to understand the pathogenesis of depression and associated gene-environment interactions. Thus, understanding the pathogenesis of depression in HD may not only facilitate tailored therapeutic approaches for HD sufferers, but may also translate to the clinical depression which devastates the lives of so many people.
亨廷顿病(HD)是一种常染色体显性遗传病,由亨廷顿蛋白中谷氨酸重复扩展编码串联重复扩展引起。HD 是进行性的,表现为精神症状(包括抑郁)、认知缺陷(最终导致痴呆)和运动异常(包括舞蹈病)。在发现导致 HD 的“遗传口吃”二十周年之际,我们仍然缺乏对为什么如此多的 HD 患者在出现明显运动缺陷之前的早期就表现出情感障碍(如抑郁症)的深入了解。在这篇综述中,我们将重点关注 HD 的主要精神表现——抑郁症,讨论从动物模型中确定的潜在发病机制,并将 HD 患者的抑郁症与更广泛的基因阴性人群进行比较。在转基因 HD 小鼠中发现抑郁样行为以及细胞和分子相关性为 HD 突变显著增加抑郁症遗传负荷的假说提供了有力支持。一个关键问题是 HD 相关的抑郁症是否与普通人群中的抑郁症不同。虽然临床前研究、临床数据和治疗反应表明存在显著相似之处,但也存在一些明显的差异。我们讨论了可能导致 HD 中抑郁症的各种分子和细胞机制,以及它们是否可能推广到其他抑郁症。HD 的常染色体显性遗传性质和具有出色构建效度的模型的存在为理解抑郁症的发病机制和相关基因-环境相互作用提供了独特的机会。因此,了解 HD 中抑郁症的发病机制不仅可以为 HD 患者提供针对性的治疗方法,还可能转化为影响许多人生活的临床抑郁症。