disease 769 words KG: ent-dise-2275be22 2026-03-20
kind:diseasesection:diseasesstate:published
Contents

SNCA Gene Variants and Mutations

Disease Info
Synaptic vesicle regulationAlpha-synuclein modulates synaptic vesicle pooling and neurotransmitter release
Membrane interactionThe protein binds to lipid membranes, potentially regulating vesicle trafficking
Antioxidant functionAlpha-synuclein may protect neurons from oxidative stress
Chaperone activityThe protein has molecular chaperone properties, aiding protein folding
MonomericUnfolded, cytosolic form
OligomericSmall aggregates (toxic intermediate)
FibrillarForms Lewy bodies in disease states
SNCA duplicationCauses autosomal dominant PD
SNCA triplicationCauses early-onset PD with rapid progression (Parkinsonism-Dementia Complex of Guam)
Lewy body formationAbnormal aggregation of alpha-synuclein into insoluble fibrils
Synaptic dysfunctionLoss of normal protein function disrupts neurotransmitter release
Mitochondrial dysfunctionAlpha-synuclein toxicity affects mitochondrial quality control
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph

Related Hypotheses (12)

Multi-Modal CRISPR Platform for Simultaneous Editing and Mon
Score: 0.42
Neuronal Subtype-Specific Alpha-Synuclein Expression Normali
Score: 0.38
Smartphone-Detected Motor Variability Correction
Score: 0.56
Purinergic Signaling Polarization Control
Score: 0.55
Mechanosensitive Ion Channel Reprogramming
Score: 0.51

Related Analyses (8)

Astrocyte reactivity subtypes in neurodegeneration
neurodegeneration · archived
Digital biomarkers and AI-driven early detection of neurodeg
neurodegeneration · archived
Neuroinflammation resolution mechanisms and pro-resolving me
neurodegeneration · archived
What are the mechanisms by which gut microbiome dysbiosis in
neurodegeneration · archived
Lipid raft composition changes in synaptic neurodegeneration
neurodegeneration · completed

Related Experiments (24)

Long-term perampanel treatment in A53T BAC-SNCA mice with PF
validation · proposed · Score: 0.95
Longitudinal TLR2 reporter gene study in α-synuclein mice
validation · proposed · Score: 0.90
PFF uptake in primary hippocampal neurons with inhibitors
exploratory · proposed · Score: 0.90
Dexamethasone treatment study in α-synuclein mice
validation · proposed · Score: 0.85
PFF clearance kinetics in Snca knockout mice
validation · proposed · Score: 0.80

See Also (15)

Therapeutic Modalities in Neurodegeneration
therapeutic · Pages share 7 hypotheses
Integrated Stress Response Modulator Therapy in Neurode
therapeutic · Pages share 7 hypotheses
CRISPR Gene Editing for Neurodegeneration
therapeutic · Pages share 7 hypotheses
Cognitive Monitoring Brain-Computer Interfaces for Neur
technology · Pages share 7 hypotheses
Mitochondrial DNA Mutations in Neurodegeneration
mechanism · Pages share 7 hypotheses