Parameter
| Biomarker | GBA1 Mut | Full name | GBA1 Gene Mutation | Molecular Type | Nucleic Acid (DNA) |
|---|---|---|---|---|---|
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Susceptibility/Risk, Diagnosis |
| Disease | Parkinson's Disease | Disease Subtypes | / | ||
| Organ | Brain | Test Sample / Technology Platform | Peripheral Blood Genomic DNA | ||
| Pathobiological Mechanisms | GBA1 gene mutation leads to decreased glucocerebrosidase (GCase) activity, accumulation of lysosomal substrates glucosylceramide (GlcCer)/glucosylsphingosine (GlcSph), thereby hindering α-synuclein (α-synuclein) clearance; meanwhile, misfolded GCase induces endoplasmic reticulum stress and autophagy-lysosome pathway abnormalities, accelerating the death of dopaminergic neurons in the substantia nigra pars compacta. | ||||
| Clinical Availability Status | Clinically available (used for genetic screening of familial PD, clarifying the assessment of PD onset risk in GBA1 mutation carriers). | ||||
| Notes and Dynamics | Therapeutic cutting-edge: The small molecule chaperone Ambroxol is undergoing phase 3 clinical trials (ASPro-PD, NCT05778617); adeno-associated virus (AAV)-mediated GBA1 gene therapy is in phase 1/2a trial stage (PROPEL, NCT04127578). | ||||