Genetics
- Genetic background modifies vulnerability to glaucoma-related phenotypes in Lmx1b mutant mice
Summary: We observed that Lmx1b mutant mice of different strain backgrounds vary in onset and severity of glaucoma-related phenotypes and identified a modifier locus on Chr 18. These results could increase understanding of the mechanisms underlying glaucoma.
- Modulating the endoplasmic reticulum stress response attenuates neurodegeneration in a Caenorhabditis elegans model of spinal muscular atrophy
Summary: A new non-larval-lethal C. elegans model of spinal muscular atrophy shows mild phenotypes, such as muscle cell and neuronal degeneration, and is therefore useful for testing potential drug treatments.
- Modeling neurodegeneration in Caenorhabditis elegans
Summary: While unsurpassed as an experimental system for fundamental biology, Caenorhabditis elegans remains undervalued for its translational potential. Here, we highlight significant outcomes from, and resources available for, C. elegans-based research into neurodegenerative disorders.
- Genetic predisposition for increased red blood cell distribution width is an early risk factor for cardiovascular and renal comorbidities
Summary: Our study pinpoints a quantitative trait locus for red blood cell distribution width (RDW) and provides a novel genetic rat model mimicking the clinical association of increased RDW with poor cardio-renal outcome.
- Zebrafish as a tool to study schizophrenia-associated copy number variants
Summary: Specific copy number variants significantly increase the risk of schizophrenia, although their mechanisms are incompletely understood. We review the zebrafish as a tool to begin to decipher the complex biology of these rare variants.
- 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.