| First Author | Griffin DA | Year | 2016 |
| Journal | Hum Mol Genet | Volume | 25 |
| Issue | 10 | Pages | 1900-1911 |
| PubMed ID | 26911675 | Mgi Jnum | J:235810 |
| Mgi Id | MGI:5803746 | Doi | 10.1093/hmg/ddw063 |
| Citation | Griffin DA, et al. (2016) Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy. Hum Mol Genet 25(10):1900-1911 |
| abstractText | Limb-girdle muscular dystrophies are a genetically diverse group of diseases characterized by chronic muscle wasting and weakness. Recessive mutations in ANO5 (TMEM16E) have been directly linked to several clinical phenotypes including limb-girdle muscular dystrophy type 2L and Miyoshi myopathy type 3, although the pathogenic mechanism has remained elusive. ANO5 is a member of the Anoctamin/TMEM16 superfamily that encodes both ion channels and regulators of membrane phospholipid scrambling. The phenotypic overlap of ANO5 myopathies with dysferlin-associated muscular dystrophies has inspired the hypothesis that ANO5, like dysferlin, may be involved in the repair of muscle membranes following injury. Here we show that Ano5-deficient mice have reduced capacity to repair the sarcolemma following laser-induced damage, exhibit delayed regeneration after cardiotoxin injury and suffer from defective myoblast fusion necessary for the proper repair and regeneration of multinucleated myotubes. Together, these data suggest that ANO5 plays an important role in sarcolemmal membrane dynamics. Genbank Mouse Genome Informatics accession no. 3576659. |
