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携带和未携带帕金森病的LRRK2和VPS35突变携带者的尿BMP磷脂水平升高。

Elevated urine BMP phospholipids in LRRK2 and VPS35 mutation carriers with and without Parkinson's disease.

作者信息

Gomes Sara, Garrido Alicia, Tonelli Francesca, Obiang Donina, Tolosa Eduardo, Martí Maria José, Ruiz-Martínez Javier, Vinagre-Aragón Ana, Hernandez-Eguiazu Haizea, Croitoru Ioana, Marshall Vicky L, Koenig Theresa, Hotzy Christoph, Hsieh Frank, Sakalosh Marianna, Tengstrand Elizabeth, Padmanabhan Shalini, Merchant Kalpana, Bruecke Christof, Pirker Walter, Zimprich Alexander, Sammler Esther

机构信息

Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, University of Dundee, Dundee, DD1 5EH, UK.

Parkinson's Disease and Movement Disorders Unit, Institut Clínic de Neurociències, Hospital Clinic Universitari, Barcelona, Spain.

出版信息

NPJ Parkinsons Dis. 2023 Apr 4;9(1):52. doi: 10.1038/s41531-023-00482-4.

DOI:10.1038/s41531-023-00482-4
PMID:37015928
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10073226/
Abstract

Elevated urine bis(monoacylglycerol)phosphate (BMP) levels have been found in gain-of-kinase function LRRK2 G2019S mutation carriers. Here, we have expanded urine BMP analysis to other Parkinson's disease (PD) associated mutations and found them to be consistently elevated in carriers of LRRK2 G2019S and R1441G/C as well as VPS35 D620N mutations. Urine BMP levels are promising biomarkers for patient stratification and potentially target engagement in clinical trials of emerging targeted PD therapies.

摘要

在激酶功能获得性LRRK2 G2019S突变携带者中发现尿双(单酰甘油)磷酸(BMP)水平升高。在此,我们将尿BMP分析扩展至其他帕金森病(PD)相关突变,发现其在LRRK2 G2019S、R1441G/C以及VPS35 D620N突变携带者中持续升高。尿BMP水平有望成为患者分层的生物标志物,并可能在新兴靶向PD疗法的临床试验中用于评估靶点参与情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fd16/10073226/29fb85b903ea/41531_2023_482_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fd16/10073226/29fb85b903ea/41531_2023_482_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fd16/10073226/29fb85b903ea/41531_2023_482_Fig1_HTML.jpg

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