Genetics
- Perturbation of the titin/MURF1 signaling complex is associated with hypertrophic cardiomyopathy in a fish model and in human patients
Summary: The authors identified and characterized a medaka mutation in titin that leads to a phenotype similar to hypertrophic cardiomyopathy. Similar mutations were also observed in human patients.
- Developmental origins for semilunar valve stenosis identified in mice harboring congenital heart disease-associated GATA4 mutation
Summary: Cellular and molecular characterization of a mutant mouse, harboring a human disease-causing GATA4 variant, identifies cellular deficits in endothelial-to-mesenchymal transition and proliferation that cause abnormal valve remodeling and resultant stenosis.
- A novel mutation in the NADH dehydrogenase (ubiquinone) 1 alpha subcomplex 4 (Ndufa4) gene links mitochondrial dysfunction to the development of diabetes in a rodent model
Summary: Here, we report, for the first time, a major inherited mutation in a diabetes-prone animal model that adversely affects mitochondrial function and leads, through oxidative stress, to the development of diet-induced diabetes.
- Understanding the aetiology and resolution of chronic otitis media from animal and human studies
Summary: Chronic middle ear inflammation is a common disease. Animal models, and in particular mouse models, have been used to elucidate some potential mechanisms, including dysfunction in immune signalling, mucociliary function or Eustachian tube function.
- Congenital diaphragmatic hernias: from genes to mechanisms to therapies
Summary: In this Review, Kardon et al. discuss the complex etiology of congenital diaphragmatic hernia, as revealed by comprehensive genomic analyses and modeling in mice, and highlight the need for new therapies to treat this developmental disorder.
- Rheumatoid arthritis: identifying and characterising polymorphisms using rat models
Summary: Using experimental models of rheumatoid arthritis, natural genetic polymorphisms associated with arthritis are identified and characterised in rats, bringing in new biological insights into arthritis in humans.
- YBR/EiJ mice: a new model of glaucoma caused by genes on chromosomes 4 and 17
Summary: We identify the YBR/EiJ mouse strain as a new model of high intraocular pressure and glaucoma, and also identify genetic loci that contribute to this glaucoma.
- Mouse myofibers lacking the SMYD1 methyltransferase are susceptible to atrophy, internalization of nuclei and myofibrillar disarray
Summary: Elimination of the lysine methyltransferase SMYD1 from mouse skeletal muscle caused myopathy with excessive internal nuclei, atrophy, myofibrillar disorganization and broad upregulation of muscle gene expression.