KEGG   PATHWAY: bbub05414
Entry
bbub05414                   Pathway                                
Name
Dilated cardiomyopathy - Bubalus bubalis (water buffalo)
Description
Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death from ventricular arrhythmia. Genetically inherited forms of DCM ("familial" DCM) have been identified in 25-35% of patients presenting with this disease, and the inherited gene defects are an important cause of "familial" DCM. The pathophysiology may be separated into two categories: defects in force generation and defects in force transmission. In cases where an underlying pathology cannot be identified, the patient is diagnosed with an "idiopathic" DCM. Current hypotheses regarding causes of "idiopathic" DCM focus on myocarditis induced by enterovirus and subsequent autoimmune myocardium impairments. Antibodies to the beta1-adrenergic receptor (beta1AR), which are detected in a substantial number of patients with "idiopathic" DCM, may increase the concentration of intracellular cAMP and intracellular Ca2+, a condition often leading to a transient hyper-performance of the heart followed by depressed heart function and heart failure.
Class
Human Diseases; Cardiovascular disease
Pathway map
bbub05414  Dilated cardiomyopathy
bbub05414

Disease
H00294  Dilated cardiomyopathy
Organism
Bubalus bubalis (water buffalo) [GN:bbub]
Gene
102389416  TGFB3; transforming growth factor beta-3 proprotein [KO:K13377]
102389682  CACNG8; voltage-dependent calcium channel gamma-8 subunit [KO:K04873]
102390332  ITGA3; integrin alpha-3 isoform X1 [KO:K06482]
102390411  TPM1; tropomyosin alpha-1 chain isoform X16 [KO:K10373]
102390629  TGFB2; transforming growth factor beta-2 proprotein isoform X3 [KO:K13376]
102391335  ITGB3; integrin beta-3 isoform X1 [KO:K06493]
102391468  TNNC1; troponin C, slow skeletal and cardiac muscles [KO:K05865]
102391598  CACNB1; voltage-dependent L-type calcium channel subunit beta-1 isoform X1 [KO:K04862]
102391844  LMNA; lamin [KO:K12641]
102392112  TNF; tumor necrosis factor isoform X1 [KO:K03156]
102392366  PRKACA; cAMP-dependent protein kinase catalytic subunit alpha isoform X1 [KO:K04345] [EC:2.7.11.11]
102392528  IGF1; insulin-like growth factor I isoform X6 [KO:K05459]
102393085  SGCA; alpha-sarcoglycan [KO:K12565]
102393363  CACNA2D2; voltage-dependent calcium channel subunit alpha-2/delta-2 isoform X1 [KO:K04859]
102393886  ITGA11; integrin alpha-11 [KO:K06587]
102393959  ACTG1; actin, cytoplasmic 2 [KO:K05692]
102393988  MYL2; myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform X1 [KO:K10351]
102394134  SLC8A3; sodium/calcium exchanger 3 isoform X1 [KO:K05849]
102394175  TPM2; tropomyosin beta chain isoform X2 [KO:K10374]
102394237  [KO:K09290]
102395168  ITGB6; integrin beta-6 isoform X1 [KO:K06589]
102395222  SGCD; delta-sarcoglycan isoform X3 [KO:K12563]
102395294  SGCB; beta-sarcoglycan [KO:K12566]
102395302  ADCY8; adenylate cyclase type 8 isoform X3 [KO:K08048] [EC:4.6.1.1]
102395549  ITGA10; integrin alpha-10 isoform X1 [KO:K06586]
102396110  ITGB7; integrin beta-7 isoform X2 [KO:K06590]
102396230  SLC8A1; sodium/calcium exchanger 1 isoform X2 [KO:K05849]
102396600  CACNG6; voltage-dependent calcium channel gamma-6 subunit isoform X1 [KO:K04871]
102396703  MYL3; myosin light chain 3 [KO:K12749]
102397191  CACNA1S; voltage-dependent L-type calcium channel subunit alpha-1S isoform X1 [KO:K04857]
102397286  SNTB1; beta-1-syntrophin [KO:K24064]
102397329  CACNG7; voltage-dependent calcium channel gamma-7 subunit [KO:K04872]
102397518  MYBPC3; myosin-binding protein C, cardiac-type [KO:K12568]
102398267  ATP2A3; sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform X1 [KO:K05853] [EC:7.2.2.10]
102398304  LAMA1; laminin subunit alpha-1 [KO:K05637]
102398687  ITGB5; integrin beta-5 [KO:K06588]
102399169  SLC8A2; sodium/calcium exchanger 2 isoform X2 [KO:K05849]
102399704  ADRB1; beta-1 adrenergic receptor [KO:K04141]
102400042  ITGB4; integrin beta-4 isoform X1 [KO:K06525]
102400136  NOS1; nitric oxide synthase, brain [KO:K13240] [EC:1.14.13.39]
102400415  SGCZ; zeta-sarcoglycan [KO:K27062]
102400496  [KO:K09290]
102400727  SSPN; sarcospan [KO:K22194]
102401103  ITGA2B; integrin alpha-IIb isoform X1 [KO:K06476]
102401176  ITGA9; integrin alpha-9 isoform X1 [KO:K06585]
102401194  TTN; titin isoform X1 [KO:K12567] [EC:2.7.11.1]
102401416  MYH6; myosin-6 [KO:K17751]
102401423  ITGB1; integrin beta-1 isoform X1 [KO:K05719]
102401695  [KO:K05719]
102401750  TPM3; tropomyosin alpha-3 chain isoform X1 [KO:K09290]
102402622  ACTC1; actin, alpha cardiac muscle 1 [KO:K12314]
102402724  EMD; emerin [KO:K12569]
102402860  CACNA2D3; voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X3 [KO:K04860]
102402971  CAV3; caveolin-3 [KO:K12959]
102403764  TPM4; tropomyosin alpha-4 chain isoform X1 [KO:K10375]
102403799  CACNA2D4; voltage-dependent calcium channel subunit alpha-2/delta-4 [KO:K04861]
102404079  DAG1; dystroglycan [KO:K06265]
102404253  SGCG; gamma-sarcoglycan isoform X1 [KO:K12564]
102404282  ADCY9; adenylate cyclase type 9 [KO:K08049] [EC:4.6.1.1]
102404538  ITGA5; integrin alpha-5 [KO:K06484]
102405249  CACNA1D; voltage-dependent L-type calcium channel subunit alpha-1D isoform X1 [KO:K04851]
102405387  ADCY5; adenylate cyclase type 5 [KO:K08045] [EC:4.6.1.1]
102405463  ITGA4; integrin alpha-4 isoform X3 [KO:K06483]
102406242  ITGA7; integrin alpha-7 isoform X6 [KO:K06583]
102406315  ITGAV; integrin alpha-V isoform X2 [KO:K06487]
102406537  CACNA2D1; voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X2 [KO:K04858]
102406685  CACNB3; voltage-dependent L-type calcium channel subunit beta-3 isoform X3 [KO:K04864]
102406871  CACNG3; voltage-dependent calcium channel gamma-3 subunit [KO:K04868]
102407190  CACNA1C; voltage-dependent L-type calcium channel subunit alpha-1C isoform X9 [KO:K04850]
102407399  CACNA1F; voltage-dependent L-type calcium channel subunit alpha-1F [KO:K04853]
102407547  DMD; dystrophin isoform X2 [KO:K10366]
102407637  ADCY6; adenylate cyclase type 6 isoform X1 [KO:K08046] [EC:4.6.1.1]
102407672  TNNT2; troponin T, cardiac muscle isoform X5 [KO:K12045]
102407976  ADCY3; adenylate cyclase type 3 isoform X1 [KO:K08043] [EC:4.6.1.1]
102408103  ADCY4; adenylate cyclase type 4 isoform X2 [KO:K08044] [EC:4.6.1.1]
102408597  GNAS; guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas isoform X1 [KO:K04632]
102409578  CACNB4; voltage-dependent L-type calcium channel subunit beta-4 isoform X2 [KO:K04865]
102409584  RYR2; ryanodine receptor 2 [KO:K04962]
102409780  SNTB2; beta-2-syntrophin [KO:K24064]
102409910  PLN; cardiac phospholamban [KO:K05852]
102410291  DES; desmin [KO:K07610]
102410456  ADCY7; adenylate cyclase type 7 isoform X1 [KO:K08047] [EC:4.6.1.1]
102410500  DTNA; dystrobrevin alpha isoform X1 [KO:K26998]
102411404  ITGA1; integrin alpha-1 [KO:K06480]
102411455  ITGB8; integrin beta-8 isoform X1 [KO:K06591]
102412068  ITGA2; integrin alpha-2 [KO:K06481]
102412471  CACNG2; voltage-dependent calcium channel gamma-2 subunit [KO:K04867]
102412622  ADCY2; adenylate cyclase type 2 [KO:K08042] [EC:4.6.1.1]
102412641  CACNG1; voltage-dependent calcium channel gamma-1 subunit [KO:K04866]
102413190  CACNG5; voltage-dependent calcium channel gamma-5 subunit isoform X2 [KO:K04870]
102413284  TNNI3; troponin I, cardiac muscle isoform X1 [KO:K12044]
102413383  PRKACB; cAMP-dependent protein kinase catalytic subunit beta isoform X4 [KO:K04345] [EC:2.7.11.11]
102413515  MYH7; myosin-7 [KO:K17751]
102413540  LAMA2; laminin subunit alpha-2 isoform X2 [KO:K05637]
102413660  TGFB1; transforming growth factor beta-1 proprotein isoform X2 [KO:K13375]
102413719  ACTB; actin, cytoplasmic 1 isoform X1 [KO:K05692]
102414062  ATP2A1; sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform X1 [KO:K05853] [EC:7.2.2.10]
102415069  ATP2A2; sarcoplasmic/endoplasmic reticulum calcium ATPase 2 [KO:K05853] [EC:7.2.2.10]
102415299  CACNG4; voltage-dependent calcium channel gamma-4 subunit [KO:K04869]
102415323  ADCY1; adenylate cyclase type 1 [KO:K08041] [EC:4.6.1.1]
102415383  AGT; angiotensinogen [KO:K09821]
102415649  SGCE; epsilon-sarcoglycan isoform X2 [KO:K27061]
102415655  ITGA8; integrin alpha-8 isoform X1 [KO:K06584]
102415854  ITGA6; integrin alpha-6 isoform X1 [KO:K06485]
112577614  [KO:K04632]
112582609  [KO:K06856]
112582664  [KO:K06856]
112583857  [KO:K09290]
123464887  SNTA1; alpha-1-syntrophin isoform X1 [KO:K24063]
Compound
C00076  Calcium cation
C00575  3',5'-Cyclic AMP
C01330  Sodium cation
Reference
PMID:12270949
  Authors
Fatkin D, Graham RM
  Title
Molecular mechanisms of inherited cardiomyopathies.
  Journal
Physiol Rev 82:945-80 (2002)
DOI:10.1152/physrev.00012.2002
Reference
PMID:18672201
  Authors
Lappe JM, Pelfrey CM, Tang WH
  Title
Recent insights into the role of autoimmunity in idiopathic dilated cardiomyopathy.
  Journal
J Card Fail 14:521-30 (2008)
DOI:10.1016/j.cardfail.2008.02.016
Reference
PMID:19273156
  Authors
Zhao P, Sharma AC, Ren J
  Title
Pathogenesis and therapy of autoimmunity-induced dilated cardiomyopathy.
  Journal
Front Biosci 14:1708-15 (2009)
DOI:10.2741/3334
Reference
PMID:11716909
  Authors
Franz WM, Muller OJ, Katus HA
  Title
Cardiomyopathies: from genetics to the prospect of treatment.
  Journal
Lancet 358:1627-37 (2001)
DOI:10.1016/S0140-6736(01)06657-0
Reference
PMID:11805847
  Authors
Towbin JA, Bowles NE
  Title
The failing heart.
  Journal
Nature 415:227-33 (2002)
DOI:10.1038/415227a
Reference
PMID:19017683
  Authors
Luk A, Ahn E, Soor GS, Butany J
  Title
Dilated cardiomyopathy: a review.
  Journal
J Clin Pathol 62:219-25 (2009)
DOI:10.1136/jcp.2008.060731
Reference
PMID:19246813
  Authors
Yoshikawa T, Baba A, Nagatomo Y
  Title
Autoimmune mechanisms underlying dilated cardiomyopathy.
  Journal
Circ J 73:602-7 (2009)
DOI:10.1253/circj.CJ-08-1151
Reference
PMID:14522402
  Authors
Mason JW
  Title
Myocarditis and dilated cardiomyopathy: an inflammatory link.
  Journal
Cardiovasc Res 60:5-10 (2003)
DOI:10.1016/S0008-6363(03)00437-1
Reference
PMID:15146239
  Authors
Jahns R, Boivin V, Hein L, Triebel S, Angermann CE, Ertl G, Lohse MJ
  Title
Direct evidence for a beta 1-adrenergic receptor-directed autoimmune attack as a cause of idiopathic dilated cardiomyopathy.
  Journal
J Clin Invest 113:1419-29 (2004)
DOI:10.1172/JCI20149
Reference
PMID:11524405
  Authors
Liu PP, Mason JW
  Title
Advances in the understanding of myocarditis.
  Journal
Circulation 104:1076-82 (2001)
DOI:10.1161/hc3401.095198
Reference
PMID:16817756
  Authors
Tam PE
  Title
Coxsackievirus myocarditis: interplay between virus and host in the pathogenesis of heart disease.
  Journal
Viral Immunol 19:133-46 (2006)
DOI:10.1089/vim.2006.19.133
Related
pathway
bbub04260  Cardiac muscle contraction
bbub04350  TGF-beta signaling pathway
bbub04512  ECM-receptor interaction
bbub04614  Renin-angiotensin system
bbub05416  Viral myocarditis
KO pathway
ko05414   

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