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Wolfram Syndrome
Loss of Function

Wolfram Syndrome

  • Genotype

    wfs1b KO

  • Mechanism

    Loss of function

  • Phenotype

    Reduced locomotor activity, Vision impairment, Cognitive deficits, Anxiety, Social isolation, Fatigue, Depression

  • Biomarker

    Insulin, C -peptide, Glucose, Neurofilament light chain (NfL), Tau

  • Gene Expression Markers

    HSPA5, DDIT3, ATF4, XBP1, BAX, CASP3, BCL2, SOD1,GPX

  • Physiology Changes

    Dysphagia, Diabetes mellitus, Optic atrophy

  • Histology Grading Endpoint

    Loss of β-cells in islets of Langerhans,Dilated endoplasmic reticulum,Accumulation of misfolded proteins, Neuronal loss in brainstem and cortex, Optic nerve atrophy,Loss of retinal ganglion cells,Thinning of retinal layers

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