The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease.
The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease.
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DOI：
10.1016/j.neuron.2017.01.018
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发表时间：
2017-02-22
期刊：
影响因子：
16.2
通讯作者：
Sidransky E
中科院分区：
文献类型：
--
作者：
Aflaki E;Westbroek W;Sidransky E
编码溶酶体酶葡萄糖脑苷脂酶的 GBA1 突变与突触核蛋白病之间的联系的发现直接源于对患有帕金森病的戈谢病患者的临床认识。 GBA1 突变现在是几种路易体疾病最常见的已知遗传风险因素，葡萄糖脑苷脂酶和寡聚 α-突触核蛋白水平之间存在负相关。虽然潜在的机制仍存在争议，但这种复杂的关联正在揭示溶酶体在神经退行性疾病中的作用，证明从一种罕见疾病中获得的见解如何能够指导对看似无关的常见疾病的发病机制和治疗的研究。
The discovery of a link between mutations in GBA1, encoding the lysosomal enzyme glucocerebrosidase, and the synucleinopathies directly resulted from the clinical recognition of patients with Gaucher disease with parkinsonism. Mutations in GBA1 are now the most common known genetic risk factor for several Lewy body disorders, and an inverse relationship exists between levels of glucocerebrosidase and oligomeric α-synuclein. While the underlying mechanisms are still debated, this complicated association is shedding light on the role of lysosomes in neurodegenerative disorders, demonstrating how insights from a rare disorder can direct research into the pathogenesis and therapy of seemingly unrelated common diseases.