Litcius/Paper detail

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

Sara Gomes, Alícia Garrido, Francesca Tonelli, Donina Obiang, Eduardo Tolosa, Marı́a José Martı́, Javier Ruiz‐Martínez, Ana Vinagre‐Aragón, Haizea Hernández-Eguiazu, Ioana Croitoru, Vicky L Marshall, Theresa Koenig, Christoph Hotzy, F. Hsieh, Marianna Sakalosh, Elizabeth Tengstrand, Shalini Padmanabhan, Kalpana Merchant, Christof Bruecke, Walter Pirker, Alexander Zimprich, Esther Sammler

2023npj Parkinson s Disease38 citationsDOIOpen Access PDF

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.

Topics & Concepts

LRRK2UrineParkinson's diseaseMedicineDiseaseMutationInternal medicineBiologyGeneticsGeneParkinson's Disease Mechanisms and TreatmentsLysosomal Storage Disorders ResearchSkin and Cellular Biology Research