Leukocyte glucocerebrosidase and β-hexosaminidase activity in sporadic and genetic Parkinson disease

Han-Joon Kim; Beomseok Jeon; Junghan Song; Woong-Woo Lee; Hyeyoung Park; Chae-Won Shin

doi:10.1016/j.parkreldis.2015.12.002

Leukocyte glucocerebrosidase and β-hexosaminidase activity in sporadic and genetic Parkinson disease

Parkinsonism Relat Disord. 2016 Feb:23:99-101. doi: 10.1016/j.parkreldis.2015.12.002. Epub 2015 Dec 11.

Authors

Han-Joon Kim¹, Beomseok Jeon², Junghan Song³, Woong-Woo Lee⁴, Hyeyoung Park¹, Chae-Won Shin¹

Affiliations

¹ Department of Neurology and Movement Disorder Center, Parkinson Study Group, and Neuroscience Research Institute, College of Medicine, Seoul National University, Seoul, South Korea.
² Department of Neurology and Movement Disorder Center, Parkinson Study Group, and Neuroscience Research Institute, College of Medicine, Seoul National University, Seoul, South Korea. Electronic address: brain@snu.ac.kr.
³ Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, South Korea; Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, South Korea.
⁴ Department of Neurology, Eulji General Hospital, Seoul, South Korea.

PMID: 26705847
DOI: 10.1016/j.parkreldis.2015.12.002

Abstract

Background: Recent reports have shown that the activities of lysosomal enzymes are altered in the CNS of sporadic PD (sPD) without GBA mutations. We hypothesized that the activities of lysosomal enzymes are altered in peripheral blood leukocytes (PBLs) of patients with sPD and other genetic parkinsonism.

Methods: Glucocerebrosidase and β-hexosaminidase activities in PBLs were measured in 36 patients with sPD, 5 PD patients with PARK2 mutations, 10 patients with spinocerebellar ataxia (SCA) 17 with parkinsonism, and 20 healthy controls.

Results: The glucocerebrosidase and β-hexosaminidase activities were not different in patients with sPD, PD with PARK2 mutations, and SCA17 with parkinsonism from those of the controls. In the patients with sPD, the activity of GCase was positively correlated with disease duration.

Conclusion: The glucocerebrosidase and β-hexosaminidase activities in PBLs cannot be used as a biomarker in sPD and other genetic parkinsonism.

Keywords: Gaucher disease; Leukocyte; Parkinson disease; β-Glucocerebrosidase; β-hexosaminidase.

MeSH terms

Biomarkers / blood
Glucosylceramidase / blood*
Humans
Leukocytes / enzymology*
Parkinson Disease / blood*
Parkinson Disease / enzymology
Parkinson Disease / genetics*
beta-N-Acetylhexosaminidases / blood*

Substances

Biomarkers
Glucosylceramidase
beta-N-Acetylhexosaminidases