Evaluation of aggrephagy markers in myofibrillar myopathies.

ABSTRACT: Myofibrillar Myopathies (MFMs) are a growing group of muscular disorders genetically determined, whose diagnosis is based on histological features as myofibrillar degeneration, Z-disk disorganization and protein aggregates' accumulation. Protein aggregates that do not fit the proteasome's narrow pore are targeted for removal via a specialized form of autophagy, called aggrephagy. Our study aims to investigate the potential pathogenic role of aggrephagy in 52 muscle samples from an Italian MFM multicentric cohort. We measured, the percentage of positive areas of key aggrephagy proteins by immunofluorescence staining, of sequestosome 1 (p62/SQSTM1), Neighbor of BRCA1 Gene 1 (NBR1), and ubiquitinated proteins (FK2) in 11 DES-, 6 DNAJB6-, 5 FLNC-, 18 MYOT- and 12 TTN-mutated patients. We showe

SUBMITTER: Iannibelli E 

PROVIDER: S-EPMC12102939 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature