CIBSS - Centre for integrative Biological Signalling Studies CIBSS

Blockage of autophagy causes severe skeletal muscle disruption in a mouse model for myofibrillar myopathy 6

Filippi K, Graf-Riesen K, Kuppusamy M, Unger A, Kimura K, Matijass M, Baeta H, Podlacha M, Haertter D, Kudin AP, Wiemann M, Węgrzyn G, Kornblum C, Reimann J, Linke WA, Huesgen PF, Kunz WS, Fleischmann BK, Hesse M.

Nat Commun. 2026; doi: 10.1038/s41467-026-71749-6.

 

Myofibrillar myopathy type 6 is a rare genetic muscle disorder with drastically shortened life expectancy. Highly collaborative work established a mouse model replicating human disease and revealed impaired autophagy as main driver of muscle degeneration, which could be improved by gene therapy.