Morais Vanessa A, Vos Melissa
iMM, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisboa, 1649-028, Portugal.
Institute of Neurogenetics, University of Luebeck, Ratzeburger Allee 160 building 67, 23562 Luebeck, Germany.
Med Genet. 2022 Aug 12;34(2):117-124. doi: 10.1515/medgen-2022-2138. eCollection 2022 Jun.
The etiology and progression of Parkinson's Disease (PD), the second most prevalent neurological disorder, have been widely investigated for several decades; however, a cure is still lacking. Despite the development of several neurotoxins and animal models to study this rather heterogeneous disease, a complete recapitulation of the neurophysiology and neuropathology of PD has not been fully achieved. One underlying cause for this could be that mutations in PD-associated genes have reduced penetrance. Therefore, the quest for novel PD models is required where a double hit approach needs to be evoked - a combination of genetic alterations and environmental factors need to be accounted for in one unique model simultaneously.
帕金森病（PD）是第二常见的神经疾病，几十年来，其病因和进展一直受到广泛研究；然而，目前仍缺乏治愈方法。尽管已经开发了几种神经毒素和动物模型来研究这种相当异质性的疾病，但尚未完全实现对PD神经生理学和神经病理学的完整重现。造成这种情况的一个潜在原因可能是，PD相关基因的突变具有降低的外显率。因此，需要寻找新的PD模型，在这种模型中需要采用双打击方法——在一个独特的模型中同时考虑基因改变和环境因素的组合。
