top of page
Danon Disease
Loss of function

Danon Disease

  • Genotype

    LAMP 2 KO

  • Mechanism

    Loss of function

  • Phenotype

    Fatigue, Motor coordination, Locomotor activity, Cognitive function, Muscle strength

  • Biomarker

    BNP, Creatine kinase, LDH, CRP

  • Gene Expression Markers

    lc3b, bax, bcl2, tgfb1, nrf2, sod1,il 6

  • Physiology Changes

    Respiration rate, Gait abnormalities, ECG - Cardiac Hypertrophy, Arrhythmias

  • Histology Grading Endpoint

    Extensive vacuolation in cardiomyocytes and muscle fibers, Marked hypertrophy and structural disruption, Myofiber loss, Fibrosis, Inflammatory cell infiltration

bottom of page