Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy
作者： Jing Xu , Mona El Refaey , Li Xu , Lixia Zhao , Yandi Gao
DOI: 10.1186/S13395-015-0069-Z
关键词:
摘要: Anoctamin 5 (ANO5) is a member of conserved gene family (TMEM16), which codes for proteins predicted to have eight transmembrane domains and putative Ca2+-activated chloride channel (CaCC) activity. It was recently reported that mutations in this result the development limb girdle muscular dystrophy type 2L (LGMD2L), Miyoshi myopathy 3 (MMD3), or gnathodiaphyseal dysplasia 1 (GDD1). Currently, there lack animal models study physiological function Ano5 disease pathology its absence. Here, we report generation characterization first Ano5-knockout (KO) mice. Our data demonstrate KO mice did not present overt skeletal cardiac muscle at rest conditions from birth up 18 months age. There were no significant differences force production deficit following repeated eccentric contractions between wild (WT) Although hypertrophy developed similarly both WT after daily isoproterenol (ISO, 100 mg/kg) treatment via intraperitoneal injection 2 weeks, they functionally indiscernible. However, microarray analysis identified genes involved lipid metabolism, complement pathways altered muscle. Taken together, these provide evidence show genetic ablation C57BL/6J does cause muscles, but deficiency may lead metabolism inflammation signaling.
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