Publications by authors named "Ming Sum Ruby Chiang"
The association between glucocerebrosidase, encoded by GBA, and Parkinson's disease (PD) highlights the role of the lysosome in PD pathogenesis. Genome-wide association studies in PD have revealed multiple associated loci, including the GALC locus on chromosome 14. GALC encodes the lysosomal enzyme galactosylceramidase, which plays a pivotal role in the glycosphingolipid metabolism pathway.
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- Protein-coding variants in the GBA gene are linked to about 10% of Parkinson's disease patients, affecting their susceptibility and disease progression by impacting glucosylceramide levels.
- A study measured levels of various sphingolipids in cerebrospinal fluid from Parkinson's patients and healthy controls, finding that those with GBA mutations had higher glucosylceramide and lower sphingomyelin levels compared to healthy individuals.
- The ratio of glucosylceramide to sphingomyelin (GlcCer/SM) may serve as a useful biomarker for monitoring disease progression and stratifying idiopathic Parkinson's disease patients in clinical trials.
Objective: Reduction in glucocerebrosidase (GCase; encoded by GBA) enzymatic activity has been linked to Parkinson's disease (PD). Here, we correlated GCase activity and PD phenotype in the Parkinson's Progression Markers Initiative (PPMI) cohort.
Methods: We measured GCase activity in dried blood spots from 1559 samples of participants in the inception PPMI cohort, collected in four annual visits (from baseline visit to Year-3).
Objective: To test the relationship between clinically relevant types of mutations (none, risk variants, mild mutations, severe mutations) and β-glucocerebrosidase activity in patients with Parkinson disease (PD) in cross-sectional and longitudinal case-control studies.
Methods: A total of 481 participants from the Harvard Biomarkers Study (HBS) and the NIH Parkinson's Disease Biomarkers Program (PDBP) were analyzed, including 47 patients with PD carrying variants (-PD), 247 without a variant (idiopathic PD), and 187 healthy controls. Longitudinal analysis comprised 195 participants with 548 longitudinal measurements over a median follow-up period of 2.