Mice expressing a human K(ATP) channel mutation have altered channel ATP sensitivity but no cardiac abnormalities |
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| Authors: | Clark R Männikkö R Stuckey D J Iberl M Clarke K Ashcroft F M |
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| Affiliation: | (1) Henry Wellcome Centre for Gene Function, Department of Physiology, Anatomy and Genetics, Parks Road, Oxford, OX1 3PT, UK;(2) OXION, University of Oxford, Oxford, UK;(3) Present address: Molecular Neuroscience, Institute of Neurology, UCL, London, UK;(4) Present address: Biological Imaging Centre, National Heart and Lung Institute, Imperial College, Hammersmith Hospital, London, UK; |
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| Abstract: | Aims/hypothesis Patients with severe gain-of-function mutations in the Kir6.2 subunit of the ATP-sensitive potassium (KATP) channel, have neonatal diabetes, muscle hypotonia and mental and motor developmental delay—a condition known as iDEND syndrome. However, despite the fact that Kir6.2 forms the pore of the cardiac KATP channel, patients show no obvious cardiac symptoms. The aim of this project was to use a mouse model of iDEND syndrome to determine whether iDEND mutations affect cardiac function and cardiac KATP channel ATP sensitivity. |
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