94% of researchers rate our articles as excellent or good
Learn more about the work of our research integrity team to safeguard the quality of each article we publish.
Find out more
BRIEF RESEARCH REPORT article
Front. Neurol.
Sec. Movement Disorders
Volume 16 - 2025 | doi: 10.3389/fneur.2025.1523655
Comparative Analysis of methods for Measuring Glucocerebrosidase Enzyme Activity in Patients with Parkinson's Disease with the GBA1 Variant
Provisionally accepted- 1 Busan St. Mary's Hospital, Busan, Republic of Korea
- 2 Pusan National University Hospital, Seo-gu, Busan, Republic of Korea
- 3 School of Medicine, Pusan National University, Busan, Republic of Korea
- 4 Inje University Busan Paik Hospital, Busan, Republic of Korea
- 5 Pusan National University Yangsan Hospital, Yangsan, Republic of Korea
Introduction: GBA1 variants are significant genetic risk factors for Parkinson's disease (PD).Accurately measuring glucocerebrosidase (GCase) activity is crucial for understanding disease progression and developing targeted therapies. This study aimed to validate strategies for measuring blood GCase activity in patients with GBA1-associated PD (GBA-PD).We recruited 25 GBA-PD patients and 27 matched PD patients without GBA1 variants (non-GBA-PD). GCase activity from fresh blood was quantified using the 4methylumbelliferyl β-D-glucopyranoside leukocyte assay (GCaseRaw). The GCase patient/normal control ratio (GCase ratio) was calculated for consistency. GCase activity in dried blood spot (DBS) specimens (GCaseDBS) and plasma glucosylsphingosine (GluSph) levels were measured using LC-MS/MS. The diagnostic accuracy was assessed using area under the curve (AUC) values.Results: No significant differences in demographics or disease characteristics were found between GBA-PD and non-GBA-PD patients. GCase activity was significantly lower in patients with GBA-PD (p < 0.001). The GCase ratio exhibited a higher diagnostic accuracy (AUC, 0.93) than GCaseRaw (AUC, 0.88) or GCaseDBS (AUC, 0.78). Plasma GluSph levels were higher in GBA-PD patients and were negatively correlated with the GCase ratio (r = -0.326; p < 0.01).The relative ratio of GCase activity showed a strong discriminatory potential, distinguishing between GBA-PD and non-GBA-PD.
Keywords: Parkinson's disease, GBA1, Glucocerebrosidase, Blood bimarkers, Glycospingolipids
Received: 06 Nov 2024; Accepted: 03 Mar 2025.
Copyright: © 2025 Jin, Lee, Kim and Lee. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Jae-heyok Lee, Pusan National University Yangsan Hospital, Yangsan, Republic of Korea
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.