Brain and Mind Centre and Faculty of Medicine and Health, School of Medical Sciences, University of Sydney, Camperdown, New South Wales, Australia.
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Mov Disord. 2021 Jun;36(6):1451-1455. doi: 10.1002/mds.28525. Epub 2021 Feb 11.
Homozygous and compound heterozygous variants in glucocerebrosidase (GBA) can cause Gaucher disease (GD), whereas heterozygous variants increase the risk of developing Parkinson's disease (PD). GD patients display altered peripheral immune proteins. However, it is unknown if these are altered in GBA carriers with PD.
To determine whether plasma cytokines and immune biomarkers associated with GD are also altered in GBA carriers with or without PD.
Inflammatory cytokines and established GD biomarkers, ferritin, CD162, CCL18, and chitotriosidase (28 biomarkers) were measured in GBA pathogenic variant carriers with (n = 135) and without (n = 83) PD, and non-carriers with (n = 75) and without PD (n = 77).
PD patients with biallelic pathogenic variants in GBA had elevated plasma levels of ferritin, CCL18, and MIP1α. These biomarkers were not elevated in heterozygous GBA carriers.
GD plasma biomarkers are not promising candidates for stratifying the risk for PD in carriers of heterozygous GBA pathogenic variants. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
葡糖脑苷脂酶（GBA）的纯合子和复合杂合变体可导致戈谢病（GD），而杂合变体增加了患帕金森病（PD）的风险。GD 患者表现出外周免疫蛋白改变。然而，尚不清楚 PD 患者的 GBA 携带者是否存在这些改变。
确定与 GD 相关的血浆细胞因子和免疫生物标志物是否也在有或没有 PD 的 GBA 携带者中发生改变。
在有（n=135）和没有（n=83）PD 的 GBA 致病性变异携带者以及有（n=75）和没有 PD（n=77）的非携带者中测量了炎症细胞因子和已建立的 GD 生物标志物，如铁蛋白、CD162、CCL18 和壳三糖苷酶（28 种生物标志物）。
携带 GBA 双等位基因突变的 PD 患者的血浆铁蛋白、CCL18 和 MIP1α 水平升高。这些生物标志物在杂合 GBA 携带者中并未升高。
GD 血浆生物标志物不是预测携带 GBA 致病性变异杂合子 PD 风险的有希望的候选标志物。
