In a new study published in the journal Brain Communication, researchers from the “Dino Ferrari Centre”, University of Milan, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico investigate the role of some variants in the MFN2 gene within an Italian cohort of patients with amyotrophic lateral sclerosis. This study, of which Dr Abati is the lead author, helps to broaden knowledge about the role that MFN2 protein may also have in motor neuron disease.

Investigating the prevalence of MFN2 mutations in amyotrophic lateral sclerosis: insights from an Italian cohort

published on Brain Communication

Elena Abati, Delia Gagliardi, Arianna Manini, Roberto Del Bo, Dario Ronchi, Megi Meneri, Francesca Beretta, Annalisa Sarno, Federica Rizzo, Edoardo Monfrini, Alessio Di Fonzo, Maria Teresa Pellecchia, Alberto Brusati, Vincenzo Silani, Giacomo Pietro Comi, Antonia Ratti, Federico Verde, Nicola Ticozzi, Stefania Corti

The study from Abati and colleagues focuses on the MFN2 gene, which encodes mitofusin 2, a protein crucial for maintaining healthy mitochondria in cells. While mutations in MFN2 are most commonly linked to Charcot-Marie-Tooth type 2A disease, this research investigates whether MFN2 mutations are also involved in amyotrophic lateral sclerosis (ALS), a neurodegenerative disease affecting motor neurons. The authors analyzed 385 ALS patients from Italian neurology clinics over a 15-year period (2008–2023), looking for rare MFN2 gene mutations after ruling out mutations in other known ALS-related genes. They identified 12 rare variants of MFN2 in 19 patients (4.9% of the group). The findings suggest a possible link between MFN2 mutations and ALS, but more research is needed to clarify how these genetic changes contribute to the disease. Understanding the contribution of MFN2 to different neuromuscular conditions helps in the understanding of its pathogenic role and its phenotyipic spectrum.