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

Interestingly, although both patients showed a complete LAMP2 protein deficiency, vacuoles were not visible on light microscopy in the muscle of patient I. This may be due to his young age because the formation of vacuoles and the development of a full picture of DD is a time-dependent process. X-axis shows fold change of mRNA abundance [FPKM] in DD-patients while Y-axis shows fold change of protein abundance (arbitrary units) in patients suffering from DD. Keywords: Danon disease; LAMP2; mitophagy; proteomics; transcriptomics EN Danon disease LAMP2 mitophagy proteomics transcriptomics 1 7 7 09/01/23 20230801 NES 230801 Key points Danon disease is characterised by both vacuolar myopathy and impaired mitochondrial turnover, evident at the morphological, mRNA and protein levels. 184 rows, 5 columns, T-test between DD-patients and Controls p < 0.05 (B) mRNA investigation: DD-patients (n = 2) versus Controls (n = 4) => 14,334 mRNA species included. [Extracted from the article]