Clinic and Policlinic for Psychiatry, Psychosomatics and Psychotherapy, University Hospital Wuerzburg, Margarete-Höppel-Platz 1, 97080, Würzburg, Germany.
Department of Psychiatry, University of Southern Denmark Odense, J.B. Winslows Vey 18, 5000, Odense, Denmark.
J Neural Transm (Vienna). 2023 May;130(5):627-646. doi: 10.1007/s00702-023-02630-9. Epub 2023 Apr 16.
Since the description of some peculiar symptoms by James Parkinson in 1817, attempts have been made to define its cause or at least to enlighten the pathology of "Parkinson's disease (PD)." The vast majority of PD subtypes and most cases of sporadic PD share Lewy bodies (LBs) as a characteristic pathological hallmark. However, the processes underlying LBs generation and its causal triggers are still unknown. ɑ-Synuclein (ɑ-syn, encoded by the SNCA gene) is a major component of LBs, and SNCA missense mutations or duplications/triplications are causal for rare hereditary forms of PD. Thus, it is imperative to study ɑ-syn protein and its pathology, including oligomerization, fibril formation, aggregation, and spreading mechanisms. Furthermore, there are synergistic effects in the underlying pathogenic mechanisms of PD, and multiple factors-contributing with different ratios-appear to be causal pathological triggers and progression factors. For example, oxidative stress, reduced antioxidative capacity, mitochondrial dysfunction, and proteasomal disturbances have each been suggested to be causal for ɑ-syn fibril formation and aggregation and to contribute to neuroinflammation and neural cell death. Aging is also a major risk factor for PD. Iron, as well as neuromelanin (NM), show age-dependent increases, and iron is significantly increased in the Parkinsonian substantia nigra (SN). Iron-induced pathological mechanisms include changes of the molecular structure of ɑ-syn. However, more recent PD research demonstrates that (i) LBs are detected not only in dopaminergic neurons and glia but in various neurotransmitter systems, (ii) sympathetic nerve fibres degenerate first, and (iii) at least in "brain-first" cases dopaminergic deficiency is evident before pathology induced by iron and NM. These recent findings support that the ɑ-syn/LBs pathology as well as iron- and NM-induced pathology in "brain-first" cases are important facts of PD pathology and via their interaction potentiate the disease process in the SN. As such, multifactorial toxic processes posted on a personal genetic risk are assumed to be causal for the neurodegenerative processes underlying PD. Differences in ratios of multiple factors and their spatiotemporal development, and the fact that common triggers of PD are hard to identify, imply the existence of several phenotypical subtypes, which is supported by arguments from both the "bottom-up/dual-hit" and "brain-first" models. Therapeutic strategies are necessary to avoid single initiation triggers leading to PD.
自詹姆斯·帕金森(James Parkinson)于 1817 年描述了一些特殊症状以来,人们一直试图确定其病因,或者至少阐明“帕金森病(PD)”的病理学。绝大多数 PD 亚型和大多数散发性 PD 病例都以路易体(LB)为特征性病理标志物。然而,LB 生成的背后过程及其因果触发因素仍然未知。ɑ-突触核蛋白(ɑ-syn,由 SNCA 基因编码)是 LB 的主要成分,SNCA 错义突变或重复/三倍增加是罕见遗传性 PD 形式的病因。因此,研究ɑ-syn 蛋白及其病理学,包括寡聚化、纤维形成、聚集和扩散机制,至关重要。此外,PD 的潜在发病机制存在协同作用,并且多种因素(以不同的比例出现)似乎是病因性病理触发因素和进展因素。例如,氧化应激、抗氧化能力降低、线粒体功能障碍和蛋白酶体紊乱已被认为是ɑ-syn 纤维形成和聚集的病因,并导致神经炎症和神经细胞死亡。衰老也是 PD 的一个主要危险因素。铁以及神经黑色素(NM)随年龄增长而增加,帕金森 SN 中的铁含量显著增加。铁诱导的病理机制包括ɑ-syn 分子结构的变化。然而,最近的 PD 研究表明,(i)LB 不仅存在于多巴胺能神经元和神经胶质细胞中,而且存在于各种神经递质系统中,(ii)交感神经纤维首先退化,(iii)至少在“脑优先”病例中,铁和 NM 诱导的病理发生之前,多巴胺能缺陷明显。这些最新发现支持ɑ-syn/LB 病理学以及“脑优先”病例中铁和 NM 诱导的病理学是 PD 病理学的重要事实,并且通过它们的相互作用增强了 SN 中的疾病过程。因此,假定 PD 神经退行性过程的病因是多因素毒性过程,这些过程基于个体遗传风险。多种因素的比例差异及其时空发展,以及 PD 的常见触发因素难以确定,这意味着存在几种表型亚型,这得到了“自下而上/双重打击”和“脑优先”模型的支持。为了避免导致 PD 的单一起始触发因素,需要制定治疗策略。