Beyond vacuolar pathology: Multiomic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis

Abstract

- Danon disease is characterised by both vacuolar myopathy and impaired mitochondrial turnover, evident at the morphological, mRNA and protein levels. - Dysfunctional mitophagy and structural abnormalities of mitochondria are hallmark features of Danon disease. - Dysfunctional mitophagy is an early pathological feature of the disease that might even precede vacuole formation.