Avenali Micol, Blandini Fabio, Cerri Silvia
Neurorehabilitation Unit, IRCCS Mondino Foundation, Pavia, Italy.
Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.
Front Aging Neurosci. 2020 Apr 21;12:97. doi: 10.3389/fnagi.2020.00097. eCollection 2020.
Heterozygous mutations of the GBA1 gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), occur in a considerable percentage of all patients with sporadic Parkinson's disease (PD), varying between 8% and 12% across the world. Genome wide association studies have confirmed the strong correlation between PD and GBA1 mutations, pointing to this element as a major risk factor for PD, possibly the most important one after age. The pathobiological mechanisms underlying the link between a defective function of GCase and the development of PD are still unknown and are currently the focus of intense investigation in the community of pre-clinical and clinical researchers in the PD field. A major controversy regards the fact that, despite the unequivocal correlation between the presence of GBA1 mutations and the risk of developing PD, only a minority of asymptomatic carriers with GBA1 mutations convert to PD in their lifetime. GBA1 mutations reduce the enzymatic function of GCase, impairing lysosomal efficiency and the cellular ability to dispose of pathological alpha-synuclein. Changes in the cellular lipidic content resulting from the accumulation of glycosphingolipids, triggered by lysosomal dysfunction, may contribute to the pathological modification of alpha-synuclein, due to its ability to interact with cell membrane lipids. Mutant GCase can impair mitochondrial function and cause endoplasmic reticulum stress, thereby impacting on cellular energy production and proteostasis. Importantly, reduced GCase activity is associated with clear activation of microglia, a major mediator of neuroinflammatory response within the brain parenchyma, which points to neuroinflammation as a major consequence of GCase dysfunction. In this present review article, we summarize the current knowledge on the role of GBA1 mutations in PD development and their phenotypic correlations. We also discuss the potential role of the GCase pathway in the search for PD biomarkers that may enable the development of disease modifying therapies. Answering these questions will aid clinicians in offering more appropriate counseling to the patients and their caregivers and provide future directions for PD preclinical research.
编码溶酶体酶葡萄糖脑苷脂酶(GCase)的GBA1基因杂合突变在所有散发性帕金森病(PD)患者中占相当比例,全球范围内该比例在8%至12%之间。全基因组关联研究证实了PD与GBA1突变之间的强相关性,表明该因素是PD的主要风险因素,可能是仅次于年龄的最重要因素。GCase功能缺陷与PD发生之间联系的病理生物学机制仍不清楚,目前是PD领域临床前和临床研究人员密切关注的焦点。一个主要争议在于,尽管GBA1突变的存在与患PD的风险之间存在明确的相关性,但只有少数携带GBA1突变的无症状携带者在其一生中会发展为PD。GBA1突变会降低GCase的酶功能,损害溶酶体效率以及细胞处理病理性α-突触核蛋白的能力。由溶酶体功能障碍引发的糖鞘脂积累导致的细胞脂质含量变化,可能由于α-突触核蛋白与细胞膜脂质相互作用的能力而导致其病理修饰。突变的GCase会损害线粒体功能并引起内质网应激,从而影响细胞能量产生和蛋白质稳态。重要的是,GCase活性降低与小胶质细胞的明显激活有关,小胶质细胞是脑实质内神经炎症反应的主要介质,这表明神经炎症是GCase功能障碍的主要后果。在这篇综述文章中,我们总结了关于GBA1突变在PD发展中的作用及其表型相关性的现有知识。我们还讨论了GCase途径在寻找可能有助于开发疾病修饰疗法的PD生物标志物方面的潜在作用。回答这些问题将有助于临床医生为患者及其护理人员提供更合适的咨询,并为PD临床前研究提供未来方向。