Mutations in ATP6V0A4, which encodes a subunit of the H+-ATPase proton pump, underlie distal renal tubular acidosis (dRTA), a condition that often involves deafness in addition to kidney-related problems. Lorente-Cánovas et al. now examine the auditory system in Atp6v0a4 knockout mice, which recapitulate the human renal dRTA phenotype and have impaired hearing. They report that the endolymphatic compartments in these mice are expanded, whereas hair cell development in the cochlea (which is crucial for normal hearing) is unaffected. Notably, Atp6v0a4 knockout mice lack an endocochlear potential (the voltage that is needed to make hair cells more sensitive to sound), although the K+ channels that normally help to generate this potential are strongly expressed. Together, these results establish Atp6v0a4 knockout mice as a model for dRTA-associated hearing loss.
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March 2013
Development/DMM Virtual Meeting 2021
Welcoming new Editors to DMM
Editor-in-Chief Liz Patton wants DMM to strengthen its presence in the field of translational biology and to focus on the importance of disease mechanisms, just as much as models. To implement this vision, we are pleased to welcome new Editors Sally Dunwoodie (Victor Chang Cardiac Research Institute, Australia), Monkol Lek (Yale School of Medicine, USA) and Rickie Patani (Francis Crick Institute, London, UK) to the team.
Roles of the gut microbiome in colorectal cancer development
Going hand-in-hand, a new Perspective by Foegeding et al. explores the Western diet as a driver of dysbiosis in colorectal cancer while a new Review by Wang et al. focuses on microbiota-driven mechanisms that initiate sporadic colorectal cancer.
preLights – the latest disease modelling preprints
Head over to preLights for the digests of the latest preprints:
Erin McGregor highlights work by Nowicka et al. that suggests a potential connection between mitochondrial dysfunction and neurodegeneration.
Emma Wilson discusses work by Dagra et al., which highlights D2 receptors as a potential target that could be used to alleviate alpha-Synuclein pathology in Parkinson’s disease.
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