Influence of PRKAG2 gene novel mutation on glycogen storage and calcium homeostasis in cardiomyocytes

Academic Journal of Second Military Medical University

Volumn 31, Issue 11, 2010, Pages 1165-1168

  Chen, Chang Yuan ^a   Zheng, Xing ^a   Qin, Yong Wen ^a   Xu, Rong Liang ^a   Hu, Jian Qiang ^a  

^a SECOND MILITARY MEDICAL UNIVERSITY   (China)

Author keywords

Calcium; Genes; Glycogen; Mutation; Prkag2 syndrome

Indexed keywords

ENHANCED GREEN FLUORESCENT PROTEIN; GLYCOGEN; PRKAG2 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADENOVIRUS; ANIMAL CELL; ARTICLE; CALCIUM CELL LEVEL; CALCIUM HOMEOSTASIS; CONTROLLED STUDY; GENE MUTATION; GLYCOGEN SYNTHESIS; HEART MUSCLE CELL; HEART VENTRICLE HYPERTROPHY; NONHUMAN; PROTEIN EXPRESSION; RAT; REPORTER GENE; VIRUS RECOMBINANT; WESTERN BLOTTING;

EID: 78650526060     PISSN: 0258879X     EISSN: None     Source Type: Journal    
DOI: 10.3724/SP.J.1008.2010.01165     Document Type: Article

References (18)

1. Ahmad F, Arad M, Musi N, He H,Wolf C, Branco D,et al. Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy [J]. Circulation,2005,112: 3140-3148.
2. Bayrak F, Komurcu-Bayrak E, Mutlu B.Kahveci G,Basaran Y, Erqinel-Unaltuna N. Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation[J]. Eur J Heart Fail, 2006,8:712-715. (Pubitemid 44635320)
3. Blair E, Redwood C, Ashrafian H, Oliveira M, Broxholme J, Karr B,et al. Mutations in the gamma (2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy:for the central role of energy compromise in disease pathogenesis[J]. Hum Mol Genet,2001,10,1215-1220.
4. Murphy R T, Mogensen J, McGarry K, Bahl A, Evans A, Osman E,et al. Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome:natural history[J].J Am Coll Cardiol, 2005,45,922-930.
5. Arad M.Seidman J G.Seidman C E. Phenotypic diversity in hypertrophic cardiomyopathy[J]. Hum Mol Genet,2002,11,2499-2506.
6. Gollob M H.Green M S, Tang A S.Roberts R. PRKAG2 cardiac syndrome : familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy[J]. Curr Opin Cardiol, 2002,17,229-234.
7. Tsybouleva N, Zhang L, Chen S, Patel R, Lutucuta S, Nemoto S,et al. Aldosterone, through novel signaling proteins, is a fundamental molecular bridge between the genetic defect and the cardiac phenotype of hypertrophic cardiomyopathy[J]. Circulation, 2004,109: 1284-1291.
8. 2+ fluxes[J]. J Mol Cell Cardiol,2010,48: 834-842.
9. Charron P, Genest M, Richard P. Komajda M, Pochmalicki G. A familial form of conduction defect related to a mutation in the PRKAG2 gene[J]. Europace,2007,9:597-600. (Pubitemid 47263788)
10. Kemp B E.Mitchelhill K I.Stapleton D. Michell B J, Chen Z P, Witters L A. Dealing with energy demand: AMP-activated protein kinase[J]. Trends Biochem Sci, 1999,24: 22-25.
11. Gollob M H. Glycogen storage disease as a unifying mechanism of disease in the PRKAG2 cardiac syndrome[J]. Biochem Soc Trans,2003,31,228-231.
12. Banerjee S K.McGaffin K R,Huang X N.Ahmad F. Activation of cardiac hypertrophic signaling pathways in a transgenic mouse with the human PRKAG2 Th400Asn mutation[J]. Biochim Biophys Acta,2010,1802,284-291.
13. Arad M,Benson D W.Perez-Atayde A R.McKenna W J,Sparks E A,Kanter R J,et al. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy[J]. J Clin Invest,2002,109,357-362.
14. Arad M. Seidman C E. Seidman J G. AMP-activated protein kinase in the heart, role during health and disease [J]. Circ Res, 2007,100:474-488. (Pubitemid 46673257)
15. Evans A M, Mustard K J. Wyatt C N, Peers C, Dipp M, Kumar P,et al. Does AMP-activated protein kinase couple inhibition of mitochondrial oxidative phosphorylation by hypoxia to calcium signaling in O2-sensing Cells[J]? J Biol Chem,2005,280:41504-41511. (Pubitemid 41832211)
16. Arad M, Benson D W, Perez-Atayde A R, McKenna W J, Sparks E A, Kanter R J, et al. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy[J]. J Clin Invest, 2002,109: 357-362. (Pubitemid 34141809)
17. Banerjee S K. Ramani R, Saba S, Rager J.Tian R. Mathier M A,et al. A PRKAG2 mutation causes biphasic changes in myocardial AMPK activity and does not protect against ischemia [J]. Biochem Biophys Res Commun,2007,360,381-387.