disease 3,622 words KG: ent-dise-f61afab9 2026-03-24
kind:diseasesection:diseasesstate:published
Contents

LRRK2 G2019S

Disease Info
North African Arab populations30-40% of PD cases, representing the highest known frequency. Studies in Tunisia, Morocco, and Algeria show particularly high carrier rates, suggesting a founder effect in this region[5].
Spanish Basque population20-30% of PD cases, due to a founder effect traced to a common ancestor approximately 1,000 years ago.
European descent1-5% of sporadic PD, 5-10% of familial PD. Most common in Southern European populations.
East Asian populations0.5-2% of PD cases, with lower prevalence than in Caucasian populations. Japanese and Korean studies show distinct haplotype backgrounds.
North American populations1-3% of PD cases, with representation across ethnic groups.
Increased autophosphorylationLRRK2 undergoes increased autophosphorylation at Ser1292, a marker of kinase activity[9].
Altered substrate recognitionEnhanced activity toward physiological substrates including MyD88, TAK1, and ERK pathway components[10].
14-3-3 proteinsBind to phosphorylated LRRK2, regulating its subcellular localization and stability
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph

Related Hypotheses (30)

Ferroptosis Inhibition for α-Synuclein Neuroprotection
Score: 0.55
Microglial TREM2-Complement Axis Modulation
Score: 0.53
Early Proteasome Restoration Therapy
Score: 0.50
cGAS-STING Senescence Circuit Disruption
Score: 0.49
Multi-Modal CRISPR Platform for Simultaneous Editing and Mon
Score: 0.42

Related Analyses (5)

Digital biomarkers and AI-driven early detection of neurodeg
neurodegeneration · archived
What are the mechanisms by which gut microbiome dysbiosis in
neurodegeneration · archived
Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived
Protein aggregation cross-seeding across neurodegenerative d
neurodegeneration · archived
Metabolic reprogramming in neurodegenerative disease
neurodegeneration · completed

Related Experiments (27)

LRRK2/GBA Mutation Carrier Resilience — Why Some Carriers Ne
validation · proposed · Score: 0.40
AAV Serotype Comparison for LRRK2 Knockdown in PD Gene Thera
validation · proposed · Score: 0.40
AAV-LRRK2 IND-Enabling Study Design
clinical · proposed · Score: 0.40
AAV Serotype Comparison for LRRK2 Knockdown in PD
validation · proposed · Score: 0.40
Alpha-Synuclein Aggregation Triggers — Sporadic PD Initiatio
clinical · proposed · Score: 0.40