Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-01-31

AUTHORS

Marshall W. Hogarth, Peter J. Houweling, Kristen C. Thomas, Heather Gordish-Dressman, Luca Bello, V. Vishwanathan, S. Chidambaranathan, W. Douglas Biggar, Laura C. McAdam, Jean K. Mah, Mar Tulinius, Avital Cnaan, Lauren P. Morgenroth, Robert Leshner, Carolina Tesi-Rocha, Mathula Thangarajh, Tina Duong, Andrew Kornberg, Monique Ryan, Yoram Nevo, Alberto Dubrovsky, Paula R. Clemens, Hoda Abdel-Hamid, Anne M. Connolly, Alan Pestronk, Jean Teasley, Tulio E. Bertorini, Richard Webster, Hanna Kolski, Nancy Kuntz, Sherilyn Driscoll, John B. Bodensteiner, Jose Carlo, Ksenija Gorni, Timothy Lotze, John W. Day, Peter Karachunski, Erik K. Henricson, Richard T. Abresch, Craig M. McDonald, Elena Pegoraro, Eric P. Hoffman, Stewart I. Head, Kathryn N. North

ABSTRACT

Duchenne muscular dystrophy (DMD) is characterized by muscle degeneration and progressive weakness. There is considerable inter-patient variability in disease onset and progression, which can confound the results of clinical trials. Here we show that a common null polymorphism (R577X) in ACTN3 results in significantly reduced muscle strength and a longer 10 m walk test time in young, ambulant patients with DMD; both of which are primary outcome measures in clinical trials. We have developed a double knockout mouse model, which also shows reduced muscle strength, but is protected from stretch-induced eccentric damage with age. This suggests that α-actinin-3 deficiency reduces muscle performance at baseline, but ameliorates the progression of dystrophic pathology. Mechanistically, we show that α-actinin-3 deficiency triggers an increase in oxidative muscle metabolism through activation of calcineurin, which likely confers the protective effect. Our studies suggest that ACTN3 R577X genotype is a modifier of clinical phenotype in DMD patients. More... »

PAGES

14143

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ncomms14143

DOI

http://dx.doi.org/10.1038/ncomms14143

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1083396238

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28139640


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