Solve: GBA1-Deficiency Disrupts Mitochondrial- Lysosomal Contact Sites by Reducing Miro1 Degradation, Creat

This challenge targets the hypothesis: **GBA1-Deficiency Disrupts Mitochondrial- Lysosomal Contact Sites by Reducing Miro1 Degradation, Creating a Pink1-Parkin Mitophagy Blockade** **Hypothesis Summary:** GBA1 deficiency leads to glucosylceramide accumulation in the inner mitochondrial membrane (as shown by lipidomics of patient fibroblasts), which directly stabilizes Miro1 protein levels by inhibiting the mitochondrial protease LONP1. Miro1 is a calcium-sensitive adaptor that tethers mitochondria to the microtubule motor complex; under normal conditions, Miro1 is ubiquitinated by the Pink1-Parkin pathway and degraded to enable mitophagosome formation. When GlcCer stabilizes Miro1, damaged mitoch **Falsifiable Predictions:** 1. Pharmacological modulation of GBA1 will alter neurodegeneration markers in validated models by ≥20% 2. Genetic knockdown of the key target will reproduce the pathological phenotype in ≥2 independent model systems 3. Patient-derived biosamples will show the predicted molecular signature (sensitivity ≥70%, specificity ≥70%) 4. Mechanistic intervention at the proposed node will rescue neuronal viability in vitro by ≥30% **Bounty Tier:** $124,670 USD (composite score 0.747) **Challenge Type:** Open — any team may submit experimental evidence supporting or refuting this hypothesis **Success Criteria:** Peer-reviewed evidence demonstrating mechanistic validation of ≥2 of the 4 predictions, with independent replication.

$124.7K
OPEN
Confidence:
70%
Created: 2026-04-28

Scoring Dimensions

GapImportanceTherapeuticPotentialInvestmentLevelUrgencyLandscapeScore Composite score: 0.672
Gap Importance0.75
Therapeutic Potential0.00
Investment Level0.00
Urgency0.60
Landscape Score0.00
Composite Score 0.672
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)

GBA1-Deficiency Disrupts Mitochondrial- Lysosomal Contact Sites by Reducing Miro GBA10.75