title: Muscular dystrophy in dysferlin-deficient mouse models.
abstract: Mutations in the dysferlin gene result in the development of a range of early adult-onset, progressive muscular dystrophies, collectively known as the dysferlinopathies. There is currently no effective treatment for these disorders. Several spontaneous and engineered alleles at the mouse dysferlin locus have been isolated and these dysferlin-deficient mouse strains are providing valuable insights into the role dysferlin plays in skeletal muscle physiology, heart function, and the regulation of the innate immune system. In addition, mouse models of dysferlinopathy are now widely used to test novel therapeutic strategies. Each dysferlin-deficient mouse strain has been characterised to varying degrees using a variety of histological and functional assays, occasionally producing results inconsistent with other strains. Here, we review each mouse model and physiological changes in various systems which accompany their muscle disease with emphasis on the how the disease process develops in different mouse models of dysferlinopathy. This review highlights the urgent requirement for standardised assays and outcome measures that will unify and coordinate research efforts throughout the field, procedures that are necessary if potential therapies are to be tested efficiently and effectively.
authors.affiliation: Newcastle University, Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle-upon-Tyne NE1 3BZ, United Kingdom.
authors.forename: Mark A
authors.initials: MA
authors.lastname: Hornsey
authors.forename: Steven H
authors.initials: SH
authors.lastname: Laval
authors.forename: Rita
authors.initials: R
authors.lastname: Barresi
authors.forename: Hanns
authors.initials: H
authors.lastname: Lochmüller
authors.forename: Kate
authors.initials: K
authors.lastname: Bushby
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D000073939:Dysferlin; D006801:Humans; D008565:Membrane Proteins / Q000172:deficiency / Q000378:metabolism*; D051379:Mice; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000209:etiology / Q000378:metabolism*; D009154:Mutation / Q000235:genetics
chemical_list: C497505:Dysf protein, mouse; D000073939:Dysferlin; D008565:Membrane Proteins