Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
FASEB J. 2013 Sep;27(9):3424-9. doi: 10.1096/fj.12-223842. Epub 2013 May 16.
The past decade has witnessed huge advances in our understanding of the genetics underlying Parkinson's disease. Identifying commonalities in the biological function of genes linked to Parkinson's provides an opportunity to elucidate pathways that lead to neuronal degeneration and eventually to disease. We propose that the genetic forms of Parkinson's disease largely associated with α-synuclein-positive neuropathology (SNCA, LRRK2, and GBA) are brought together by involvement in the autophagy/lysosomal pathway and that this represents a unifying pathway to disease in these cases.
过去十年见证了我们对帕金森病遗传基础的理解的巨大进步。鉴定与帕金森病相关的基因的生物学功能的共性为阐明导致神经元变性并最终导致疾病的途径提供了机会。我们提出,与α-突触核蛋白阳性神经病理学(SNCA、LRRK2 和 GBA)主要相关的遗传形式的帕金森病通过参与自噬/溶酶体途径而聚集在一起,并且在这些情况下这代表了一种通向疾病的统一途径。