Resolve: CTSO/CTSF Variants Create Synthetic Lethal Interaction with GBA1 Mutations in PD

Recent PD GWAS identified associations in CTSO and CTSF alongside known GBA1 risk. The synthetic lethality hypothesis proposes that reduced non-lysosomal cathepsin activity in CTSO/CTSF carriers combined with GBA1-mediated glucocerebrosidase impairment creates a proteostatic crisis that accelerates α-synuclein aggregation beyond what either mutation alone causes. Testing this requires: (1) establishing the molecular mechanism (cathepsin B/D imbalance disrupting α-synuclein degradation), (2) demonstrating synergy (not additivity), and (3) identifying the intervention point. Falsifiable prediction: Combined CTSO siRNA + GBA1-N370S in dopaminergic neurons should increase α-synuclein seeding rate by ≥3× vs GBA1-N370S alone (Thioflavin T kinetics assay). CTSO knockout alone should increase seeding by <1.5×, establishing synergy above additivity. Recombinant cathepsin B supplementation should rescue the combined defect.

$500.0K
OPEN
Confidence:
58%
Created: 2026-04-28
Detected Targets:
GBA1

3D Protein Structure

View 3D structure: GBA1 — PDB 2V3D

Experimental structure from RCSB PDB | Powered by Mol* | Rotate: click+drag | Zoom: scroll

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Linked Hypotheses (1)

PD-Associated GWAS Variants in CTSO and CTSF Genes Create a Synthetic Lethal Int GBA10.74