Fig. 3

Study of EVs purified from blood derived of CHRNE-related CMS patients. (a) Characterization of EVs purified from sera derived from CMS-patients and age-matched controls including determination of size, protein concentration number per 500 µl and total protein amount. (b) Schematic representation of proteomic workflow applied on EVs derived from CMS patients and healthy controls. (c) Volcano plot depicting statistically significant dysregulated proteins in EVs of CHRNE-patients. Increased proteins are represented by purple dots wereas decreased proteins are represented by organge dots. (d) Venn diagram showing overlaps of dysregulated EV proteins across the different CMS subtypes. (e) Box plots depicting TARSH, ATRN and PLEC as three proteins of major interest in addition to ANK3, LAMC1 and FHOD1 dysregulated in EVs of CHRNE-patients. No changes of these proteins were noted between patients with and without intellectual disability