Cytokines and Gaucher biomarkers in glucocerebrosidase carriers with and without Parkinson disease

Jasmin Galper; Manisha Balwani; Stanley Fahn; Cheryl Waters; Lynne Krohn; Ziv Gan-Or; Nicolas Dzamko; Roy N. Alcalay

doi:10.1002/mds.28525

Cytokines and Gaucher biomarkers in glucocerebrosidase carriers with and without Parkinson disease

Jasmin Galper, Manisha Balwani, Stanley Fahn, Cheryl Waters, Lynne Krohn, Ziv Gan-Or, Nicolas Dzamko^*, Roy N. Alcalay^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

22 Citations (Scopus)

Abstract

Background: 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. Objectives: To determine whether plasma cytokines and immune biomarkers associated with GD are also altered in GBA carriers with or without PD. Methods: 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). Results: 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. Conclusion: GD plasma biomarkers are not promising candidates for stratifying the risk for PD in carriers of heterozygous GBA pathogenic variants.

Original language	English
Pages (from-to)	1451-1455
Number of pages	5
Journal	Movement Disorders
Volume	36
Issue number	6
DOIs	https://doi.org/10.1002/mds.28525
Publication status	Published - Jun 2021
Externally published	Yes

Bibliographical note

Copyright the Author(s) 2021. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.

Keywords

cytokine
Gaucher disease
glucocerebrosidase
inflammation
monocyte
Parkinson's disease

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10.1002/mds.28525Licence: CC BY-NC

Publisher version (open access)Final published version, 743 KBLicence: CC BY-NC

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title = "Cytokines and Gaucher biomarkers in glucocerebrosidase carriers with and without Parkinson disease",

abstract = "Background: 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. Objectives: To determine whether plasma cytokines and immune biomarkers associated with GD are also altered in GBA carriers with or without PD. Methods: 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). Results: 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. Conclusion: GD plasma biomarkers are not promising candidates for stratifying the risk for PD in carriers of heterozygous GBA pathogenic variants.",

keywords = "cytokine, Gaucher disease, glucocerebrosidase, inflammation, monocyte, Parkinson's disease",

author = "Jasmin Galper and Manisha Balwani and Stanley Fahn and Cheryl Waters and Lynne Krohn and Ziv Gan-Or and Nicolas Dzamko and Alcalay, \{Roy N.\}",

note = "Copyright the Author(s) 2021. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.",

year = "2021",

month = jun,

doi = "10.1002/mds.28525",

language = "English",

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pages = "1451--1455",

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T1 - Cytokines and Gaucher biomarkers in glucocerebrosidase carriers with and without Parkinson disease

AU - Galper, Jasmin

AU - Balwani, Manisha

AU - Fahn, Stanley

AU - Waters, Cheryl

AU - Krohn, Lynne

AU - Gan-Or, Ziv

AU - Dzamko, Nicolas

AU - Alcalay, Roy N.

N1 - Copyright the Author(s) 2021. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.

PY - 2021/6

Y1 - 2021/6

N2 - Background: 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. Objectives: To determine whether plasma cytokines and immune biomarkers associated with GD are also altered in GBA carriers with or without PD. Methods: 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). Results: 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. Conclusion: GD plasma biomarkers are not promising candidates for stratifying the risk for PD in carriers of heterozygous GBA pathogenic variants.

AB - Background: 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. Objectives: To determine whether plasma cytokines and immune biomarkers associated with GD are also altered in GBA carriers with or without PD. Methods: 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). Results: 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. Conclusion: GD plasma biomarkers are not promising candidates for stratifying the risk for PD in carriers of heterozygous GBA pathogenic variants.

KW - cytokine

KW - Gaucher disease

KW - glucocerebrosidase

KW - inflammation

KW - monocyte

KW - Parkinson's disease

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DO - 10.1002/mds.28525

M3 - Article

C2 - 33570220

AN - SCOPUS:85100847156

SN - 0885-3185

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JO - Movement Disorders

JF - Movement Disorders

IS - 6

ER -

Cytokines and Gaucher biomarkers in glucocerebrosidase carriers with and without Parkinson disease

Abstract

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