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Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease.
J Clin Neurosci 2016; 28:185-6JC

Abstract

Mutations in the glucocerebrosidase (GBA1) gene, the most common genetic contributor to Parkinson's disease (PD), are associated with an increased risk of PD in heterozygous and homozygous carriers. While glucocerebrosidase enzyme (GCase) activity is consistently low in Gaucher disease, there is a range of leukocyte GCase activity in healthy heterozygous GBA1 mutation carriers. To determine whether GCase activity may be a marker for PD with heterozygous GBA1 mutations (GBA1 mutation PD, GBA PD), GBA PD patients (n=15) were compared to PD patients without heterozygous GBA1 mutations (idiopathic PD; n=8), heterozygous GBA1 carriers without PD (asymptomatic carriers; n=4), and biallelic mutation carriers with PD (Gaucher disease with PD, GD1 PD; n=3) in a pilot study. GCase activity (nmol/mg protein/hour) in GD1 PD (median [interquartile range]; minimum-maximum: 6.4 [5.7]; 5.3-11) was lower than that of GBA PD (16.0 [7.0]; 11-40) (p=0.01), while GCase activity in GBA PD was lower than idiopathic PD (28.5 [15.0]; 16-56) (p=0.01) and asymptomatic carriers (25.5 [2.5]; 23-27) (p=0.04). Therefore, GCase activity appears to be a possible marker of heterozygous GBA1 mutation PD, and larger studies are warranted. Prospective studies are also necessary to determine whether lower GCase activity precedes development of PD.

Authors+Show Affiliations

Department of Neurology, Mount Sinai Beth Israel Medical Center, 10 Union Square East, Suite 5J, New York, NY 10003, USA.Department of Neurology, NYU Langone Medical Center, New York, NY, USA.Department of Neurology, Mount Sinai Beth Israel Medical Center, 10 Union Square East, Suite 5J, New York, NY 10003, USA.Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, University of Cincinnati College of Medicine, OH, USA.Department of Neurology, Mount Sinai Beth Israel Medical Center, 10 Union Square East, Suite 5J, New York, NY 10003, USA.Department of Neurology, Mount Sinai Beth Israel Medical Center, 10 Union Square East, Suite 5J, New York, NY 10003, USA.Department of Neurology, Mount Sinai Beth Israel Medical Center, 10 Union Square East, Suite 5J, New York, NY 10003, USA.Department of Neurology, Mount Sinai Beth Israel Medical Center, 10 Union Square East, Suite 5J, New York, NY 10003, USA.Department of Neurology, Mount Sinai Beth Israel Medical Center, 10 Union Square East, Suite 5J, New York, NY 10003, USA.Department of Neurology, Mount Sinai Beth Israel Medical Center, 10 Union Square East, Suite 5J, New York, NY 10003, USA.Department of Neurology, Mount Sinai Beth Israel Medical Center, 10 Union Square East, Suite 5J, New York, NY 10003, USA.Department of Neurology, Mount Sinai Beth Israel Medical Center, 10 Union Square East, Suite 5J, New York, NY 10003, USA; Department of Neurology, Mount Sinai School of Medicine, NY, USA.Department of Neurology, NYU Langone Medical Center, New York, NY, USA; Mater Misericordiae University Hospital, Dublin, Ireland.Department of Neurology, Mount Sinai Beth Israel Medical Center, 10 Union Square East, Suite 5J, New York, NY 10003, USA; Department of Neurology, Mount Sinai School of Medicine, NY, USA. Electronic address: rsaunder@bethisraelny.org.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

26857292

Citation

Ortega, Roberto A., et al. "Glucocerebrosidase Enzyme Activity in GBA Mutation Parkinson's Disease." Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, vol. 28, 2016, pp. 185-6.
Ortega RA, Torres PA, Swan M, et al. Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease. J Clin Neurosci. 2016;28:185-6.
Ortega, R. A., Torres, P. A., Swan, M., Nichols, W., Boschung, S., Raymond, D., ... Saunders-Pullman, R. (2016). Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease. Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 28, pp. 185-6. doi:10.1016/j.jocn.2015.12.004.
Ortega RA, et al. Glucocerebrosidase Enzyme Activity in GBA Mutation Parkinson's Disease. J Clin Neurosci. 2016;28:185-6. PubMed PMID: 26857292.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease. AU - Ortega,Roberto A, AU - Torres,Paola A, AU - Swan,Matthew, AU - Nichols,William, AU - Boschung,Sarah, AU - Raymond,Deborah, AU - Barrett,Matthew J, AU - Johannes,Brooke A, AU - Severt,Lawrence, AU - Shanker,Vicki, AU - Hunt,Ann L, AU - Bressman,Susan, AU - Pastores,Gregory M, AU - Saunders-Pullman,Rachel, Y1 - 2016/02/05/ PY - 2015/04/30/received PY - 2015/11/12/revised PY - 2015/12/05/accepted PY - 2016/2/10/entrez PY - 2016/2/10/pubmed PY - 2017/3/24/medline KW - Biomarker KW - GBA KW - GBA enzyme activity KW - Gaucher KW - Glucocerebrosidase KW - Parkinson’s disease SP - 185 EP - 6 JF - Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia JO - J Clin Neurosci VL - 28 N2 - Mutations in the glucocerebrosidase (GBA1) gene, the most common genetic contributor to Parkinson's disease (PD), are associated with an increased risk of PD in heterozygous and homozygous carriers. While glucocerebrosidase enzyme (GCase) activity is consistently low in Gaucher disease, there is a range of leukocyte GCase activity in healthy heterozygous GBA1 mutation carriers. To determine whether GCase activity may be a marker for PD with heterozygous GBA1 mutations (GBA1 mutation PD, GBA PD), GBA PD patients (n=15) were compared to PD patients without heterozygous GBA1 mutations (idiopathic PD; n=8), heterozygous GBA1 carriers without PD (asymptomatic carriers; n=4), and biallelic mutation carriers with PD (Gaucher disease with PD, GD1 PD; n=3) in a pilot study. GCase activity (nmol/mg protein/hour) in GD1 PD (median [interquartile range]; minimum-maximum: 6.4 [5.7]; 5.3-11) was lower than that of GBA PD (16.0 [7.0]; 11-40) (p=0.01), while GCase activity in GBA PD was lower than idiopathic PD (28.5 [15.0]; 16-56) (p=0.01) and asymptomatic carriers (25.5 [2.5]; 23-27) (p=0.04). Therefore, GCase activity appears to be a possible marker of heterozygous GBA1 mutation PD, and larger studies are warranted. Prospective studies are also necessary to determine whether lower GCase activity precedes development of PD. SN - 1532-2653 UR - https://www.unboundmedicine.com/medline/citation/26857292/Glucocerebrosidase_enzyme_activity_in_GBA_mutation_Parkinson's_disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0967-5868(15)00675-X DB - PRIME DP - Unbound Medicine ER -