Emerin is involved in microtubule-organizing center (MTOC) relocalization to the nuclear surface: altered dynamics in type 1 Emery-Dreifuss Muscular Dystrophy

Elenco Abstract

Elisabetta Mattioli

Emerin is involved in microtubule-organizing center (MTOC) relocalization to the nuclear surface: altered dynamics in type 1 Emery-Dreifuss Muscular Dystrophy

Autori

ELISABETTA MATTIOLI (1 CNR INSTITUTE OF MOLECULAR GENETICS “LUIGI LUCA CAVALLI-SFORZA”, UNIT OF BOLOGNA, BOLOGNA, ITALY 2 IRCCS ISTITUTO ORTOPEDICO RIZZOLI, BOLOGNA, ITALY – BIOLOGO)
VITTORIA CENNI (1 CNR INSTITUTE OF MOLECULAR GENETICS “LUIGI LUCA CAVALLI-SFORZA”, UNIT OF BOLOGNA, BOLOGNA, ITALY 2 IRCCS ISTITUTO ORTOPEDICO RIZZOLI, BOLOGNA, ITALY – BIOLOGO)
ELISA SCHENA (1 CNR INSTITUTE OF MOLECULAR GENETICS “LUIGI LUCA CAVALLI-SFORZA”, UNIT OF BOLOGNA, BOLOGNA, ITALY 2 IRCCS ISTITUTO ORTOPEDICO RIZZOLI, BOLOGNA, ITALY – BIOLOGO)
CHIARA FIORILLO (3 CHILD NEUROPSYCHIATRY – IRCCS G.GASLINI UNIVERSITY OF GENOVA, GENOVA, ITALY – MEDICO)
ANTONELLA PINI (PEDIATRIC UNIT, IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA, BOLOGNA, ITALY – MEDICO)
MELANIA GIANNOTTA (PEDIATRIC UNIT, IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA, BOLOGNA, ITALY – MEDICO)
MARCO CAVALLO (SHOULDER-ELBOW SURGERY UNIT, IRCCS ISTITUTO ORTOPEDICO RIZZOLI, BOLOGNA, ITALY – MEDICO)
ELEONORA CATTIN (6 DEPARTMENT OF LIFE SCIENCES, UNIVERSITY OF MODENA AND REGGIO EMILIA, MODENA, ITALY 7 CENTRE FOR REGENERATIVE MEDICINE, “STEFANO FERRARI” UNIVERSITY OF MODENA AND REGGIO EMILIA, MODENA, ITALY – BIOLOGO)
FEDERICO CORRADI (6 DEPARTMENT OF LIFE SCIENCES, UNIVERSITY OF MODENA AND REGGIO EMILIA, MODENA, ITALY 7 CENTRE FOR REGENERATIVE MEDICINE, “STEFANO FERRARI” UNIVERSITY OF MODENA AND REGGIO EMILIA, MODENA, ITALY – BIOLOGO)
ALESSANDRA RECCHIA (6 DEPARTMENT OF LIFE SCIENCES, UNIVERSITY OF MODENA AND REGGIO EMILIA, MODENA, ITALY – BIOLOGO)
GIOVANNA LATTANZI (1 CNR INSTITUTE OF MOLECULAR GENETICS “LUIGI LUCA CAVALLI-SFORZA”, UNIT OF BOLOGNA, BOLOGNA, ITALY 2 IRCCS ISTITUTO ORTOPEDICO RIZZOLI, BOLOGNA, ITALY – BIOLOGO)

Presentatore

ELISABETTA MATTIOLI

Modalità

Oral Communication

Abstract

During skeletal muscle differentiation, centrosomal proteins are reorganized at the nuclear envelope level by LINC complex proteins. Here we show that emerin is required for a correct MTOC-proteins recruitment to the nuclear surface and microtubules organization. Moreover, loss of emerin, as occurs in type 1 Emery-Dreifuss Muscular Dystrophy myotubes (EDMD1), is also associated with LINC complex proteins impairment and microtubules nucleation defects. Upon rescue of emerin expression by CRISPR/Cas base editing of mutated EMD gene, we observed a recovery of the whole LINC complex and centrosomal proteins. These results show that emerin is indispensable for MTOC organization on the nuclear envelope in skeletal muscle cells and suggest that disruption of this complex could be a key pathogenetic event in Emery-Dreifuss Muscular Dystrophy.