Characterization of the role of 2 R531G mutation in AMP-activated protein kinase in cardiac hypertrophy and Wolff-Parkinson-White syndrome
نویسندگان
چکیده
Joanna K. Davies, Dominic J. Wells, Ke Liu, Helen R. Whitrow, Tyrone D. Daniel, Robert Grignani, Craig A. Lygate, Jürgen E. Schneider, Gaëtane Noël, Hugh Watkins, and David Carling Cellular Stress Group, Medical Research Council Clinical Sciences Centre, Hammersmith Campus, Imperial College London; Gene Targeting Unit Department of Cellular and Molecular Neuroscience, Division of Neuroscience and Mental Health, Charing Cross Campus, Imperial College London, London; Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom; and Laboratory of Physiological Chemistry, Christian de Duve Institute of Cellular Pathology, Brussels, Belgium
منابع مشابه
Characterization of the role of gamma2 R531G mutation in AMP-activated protein kinase in cardiac hypertrophy and Wolff-Parkinson-White syndrome.
AMP-activated protein kinase (AMPK) is the downstream component of a protein kinase cascade that plays a key role in the regulation of energy metabolism. In humans, mutations in the gamma2-subunit of AMPK cause cardiac hypertrophy associated with Wolff-Parkinson-White syndrome, characterized by ventricular preexcitation. The effect of these mutations on AMPK activity and in development of the d...
متن کاملAdenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history.
OBJECTIVES The aim of this study was to investigate the clinical expression of adenosine monophosphate-activated protein kinase (AMPK) gene mutations (PRKAG2) in adenosine monophosphate (AMP) kinase disease based on 12 years follow-up of known mutation carriers and to define the prevalence of PRKAG2 mutations in hypertrophic cardiomyopathy (HCM). BACKGROUND Adenosine monophosphate-activated p...
متن کاملTransgenic mouse model of ventricular preexcitation and atrioventricular reentrant tachycardia induced by an AMP-activated protein kinase loss-of-function mutation responsible for Wolff-Parkinson-White syndrome.
BACKGROUND We identified a gene (PRKAG2) that encodes the gamma-2 regulatory subunit of AMP-activated protein kinase (AMPK) with a mutation (Arg302Gln) responsible for familial Wolff-Parkinson-White (WPW) syndrome. The human phenotype consists of ventricular preexcitation, conduction abnormalities, and cardiac hypertrophy. METHODS AND RESULTS To elucidate the molecular basis for the phenotype...
متن کاملConstitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.
Mutations in PRKAG2, the gene for the gamma 2 regulatory subunit of AMP-activated protein kinase, cause cardiac hypertrophy and electrophysiologic abnormalities, particularly preexcitation (Wolff-Parkinson-White syndrome) and atrioventricular conduction block. To understand the mechanisms by which PRKAG2 defects cause disease, we defined novel mutations, characterized the associated cardiac his...
متن کاملAbsence of PRKAG2 Mutation in Isolated Familial Wolff-Parkinson-White Syndrome A Case Report
Familial Wolff-Parkinson-White (WPW) syndrome has an autosomal dominant inheritance. Previous genetic linkage studies showed the locus was on Chromosome 7 (7q3), and the gene was identified to be PRKAG2, which encodes for gamma-2 subunit of AMP-activated protein kinase (AMPK). The PRKAG2 mutation has been related to familial WPW syndrome with concomitant hypertrophic cardiomyopathy and/or atrio...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره شماره
صفحات -
تاریخ انتشار 2006