KEGG   PATHWAY: cjc05414
Entry
cjc05414                    Pathway                                
Name
Dilated cardiomyopathy - Callithrix jacchus (white-tufted-ear marmoset)
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
cjc05414  Dilated cardiomyopathy
cjc05414

Disease
H00294  Dilated cardiomyopathy
Organism
Callithrix jacchus (white-tufted-ear marmoset) [GN:cjc]
Gene
100385605  CACNA2D1; voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X2 [KO:K04858]
100385658  ADCY2; adenylate cyclase type 2 [KO:K08042] [EC:4.6.1.1]
100386041  CACNA1F; voltage-dependent L-type calcium channel subunit alpha-1F isoform X1 [KO:K04853]
100386042  ITGB3; integrin beta-3 isoform X1 [KO:K06493]
100386514  PLN; cardiac phospholamban [KO:K05852]
100386674  ITGA5; integrin alpha-5 [KO:K06484]
100386753  ITGA3; integrin alpha-3 isoform X1 [KO:K06482]
100386874  [KO:K09290]
100387168  SGCZ; zeta-sarcoglycan [KO:K27062]
100387356  CACNB1; voltage-dependent L-type calcium channel subunit beta-1 isoform X4 [KO:K04862]
100387664  ADRB1; beta-1 adrenergic receptor [KO:K04141]
100388094  [KO:K05692]
100388745  DTNA; dystrobrevin alpha isoform X2 [KO:K26998]
100389291  ITGA4; integrin alpha-4 isoform X1 [KO:K06483]
100389395  AGT; angiotensinogen precursor [KO:K09821]
100389415  TNNI3; troponin I, cardiac muscle [KO:K12044]
100389872  SGCB; beta-sarcoglycan isoform X1 [KO:K12566]
100389906  ITGAV; integrin alpha-V [KO:K06487]
100390087  CACNG2; LOW QUALITY PROTEIN: voltage-dependent calcium channel gamma-2 subunit [KO:K04867]
100390112  CACNA1S; voltage-dependent L-type calcium channel subunit alpha-1S isoform X1 [KO:K04857]
100390586  TGFB2; transforming growth factor beta-2 proprotein isoform X2 [KO:K13376]
100391162  TNNC1; troponin C, slow skeletal and cardiac muscles [KO:K05865]
100392123  PRKACG; LOW QUALITY PROTEIN: cAMP-dependent protein kinase catalytic subunit gamma [KO:K04345] [EC:2.7.11.11]
100392463  TGFB3; transforming growth factor beta-3 proprotein isoform X1 [KO:K13377]
100393049  SGCA; alpha-sarcoglycan isoform X1 [KO:K12565]
100393056  CACNB4; voltage-dependent L-type calcium channel subunit beta-4 isoform X1 [KO:K04865]
100393163  SGCG; gamma-sarcoglycan isoform X2 [KO:K12564]
100393554  TPM1; tropomyosin alpha-1 chain isoform X1 [KO:K10373]
100393965  [KO:K09290]
100394145  ITGB1; integrin beta-1 isoform X1 [KO:K05719]
100394265  ADCY1; adenylate cyclase type 1 [KO:K08041] [EC:4.6.1.1]
100394985  IGF1; insulin-like growth factor I isoform X2 [KO:K05459]
100395279  ITGB5; integrin beta-5 isoform X1 [KO:K06588]
100395530  DAG1; dystroglycan 1 [KO:K06265]
100396664  TTN; titin isoform X44 [KO:K12567] [EC:2.7.11.1]
100396724  SGCD; delta-sarcoglycan isoform X1 [KO:K12563]
100396742  TNNT2; troponin T, cardiac muscle isoform X7 [KO:K12045]
100397177  MYBPC3; myosin-binding protein C, cardiac-type isoform X1 [KO:K12568]
100397484  TNF; tumor necrosis factor [KO:K03156]
100397792  ITGA11; integrin alpha-11 [KO:K06587]
100397940  CACNA1D; voltage-dependent L-type calcium channel subunit alpha-1D isoform X11 [KO:K04851]
100398261  ATP2A2; sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform X3 [KO:K05853] [EC:7.2.2.10]
100398645  [KO:K05692]
100398831  CACNG7; voltage-dependent calcium channel gamma-7 subunit isoform X2 [KO:K04872]
100398837  ITGB4; integrin beta-4 isoform X1 [KO:K06525]
100398865  ACTC1; actin, alpha cardiac muscle 1 [KO:K12314]
100399193  CACNG8; voltage-dependent calcium channel gamma-8 subunit [KO:K04873]
100399269  ITGA9; integrin alpha-9 isoform X1 [KO:K06585]
100400067  MYH6; myosin-6 isoform X1 [KO:K17751]
100400430  MYH7; myosin-7 [KO:K17751]
100400467  CACNA2D3; voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X9 [KO:K04860]
100400720  ITGA10; integrin alpha-10 isoform X1 [KO:K06586]
100400737  PRKACA; LOW QUALITY PROTEIN: cAMP-dependent protein kinase catalytic subunit alpha [KO:K04345] [EC:2.7.11.11]
100401019  ITGB8; integrin beta-8 isoform X1 [KO:K06591]
100401391  [KO:K05692]
100401580  LMNA; lamin [KO:K12641]
100401590  SNTB2; beta-2-syntrophin [KO:K24064]
100401625  ITGB6; integrin beta-6 isoform X4 [KO:K06589]
100401654  ITGA7; integrin alpha-7 isoform X3 [KO:K06583]
100401979  TGFB1; transforming growth factor beta-1 proprotein isoform X2 [KO:K13375]
100402007  DES; desmin [KO:K07610]
100402415  MYL3; myosin light chain 3 [KO:K12749]
100402662  SNTB1; beta-1-syntrophin [KO:K24064]
100402863  ITGB7; integrin beta-7 isoform X1 [KO:K06590]
100403358  ATP2A1; sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform X1 [KO:K05853] [EC:7.2.2.10]
100403557  ITGA6; integrin alpha-6 isoform X7 [KO:K06485]
100403636  ITGA2; integrin alpha-2 isoform X1 [KO:K06481]
100403734  LAMA1; laminin subunit alpha-1 isoform X1 [KO:K05637]
100404358  ITGA1; integrin alpha-1 isoform X1 [KO:K06480]
100404392  CACNG6; voltage-dependent calcium channel gamma-6 subunit isoform X1 [KO:K04871]
100404409  [KO:K05692]
100404484  ADCY8; adenylate cyclase type 8 isoform X1 [KO:K08048] [EC:4.6.1.1]
100404620  ADCY7; adenylate cyclase type 7 isoform X1 [KO:K08047] [EC:4.6.1.1]
100404891  ITGA8; integrin alpha-8 [KO:K06584]
100405403  ADCY9; adenylate cyclase type 9 isoform X2 [KO:K08049] [EC:4.6.1.1]
100405465  SNTA1; alpha-1-syntrophin isoform X1 [KO:K24063]
100405831  LAMA2; laminin subunit alpha-2 isoform X1 [KO:K05637]
100405927  CAV3; caveolin-3 [KO:K12959]
100406296  ACTB; actin, cytoplasmic 1 [KO:K05692]
100406331  DMD; dystrophin isoform X2 [KO:K10366]
100406617  ADCY6; adenylate cyclase type 6 isoform X1 [KO:K08046] [EC:4.6.1.1]
100406735  CACNA1C; voltage-dependent L-type calcium channel subunit alpha-1C isoform X36 [KO:K04850]
100406907  [KO:K05692]
100406916  RYR2; ryanodine receptor 2 isoform X7 [KO:K04962]
100407692  PRKACB; cAMP-dependent protein kinase catalytic subunit beta isoform X1 [KO:K04345] [EC:2.7.11.11]
100407853  TPM2; tropomyosin beta chain isoform X3 [KO:K10374]
100408115  [KO:K04345] [EC:2.7.11.11]
100408470  CACNA2D2; voltage-dependent calcium channel subunit alpha-2/delta-2 isoform X3 [KO:K04859]
100408515  GNAS; guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas isoform X2 [KO:K04632]
100408748  ITGA2B; integrin alpha-IIb [KO:K06476]
100408790  MYL2; myosin regulatory light chain 2, ventricular/cardiac muscle isoform [KO:K10351]
100409006  ACTG1; actin, cytoplasmic 2 [KO:K05692]
100409206  [KO:K04345] [EC:2.7.11.11]
100409992  SGCE; epsilon-sarcoglycan isoform X6 [KO:K27061]
100409999  CACNA2D4; voltage-dependent calcium channel subunit alpha-2/delta-4 isoform X1 [KO:K04861]
100410499  CACNG3; voltage-dependent calcium channel gamma-3 subunit [KO:K04868]
100410704  CACNB2; voltage-dependent L-type calcium channel subunit beta-2 isoform X1 [KO:K04863]
100410882  [KO:K05692]
100411164  SLC8A2; sodium/calcium exchanger 2 [KO:K05849]
100412198  SLC8A1; sodium/calcium exchanger 1 isoform X1 [KO:K05849]
100412618  [KO:K05692]
100412630  SLC8A3; sodium/calcium exchanger 3 isoform X4 [KO:K05849]
100412782  ADCY5; adenylate cyclase type 5 isoform X1 [KO:K08045] [EC:4.6.1.1]
100412800  TPM3; tropomyosin alpha-3 chain isoform X3 [KO:K09290]
100412931  TPM4; tropomyosin alpha-4 chain isoform X2 [KO:K10375]
100413785  CACNG1; voltage-dependent calcium channel gamma-1 subunit [KO:K04866]
100414144  CACNG4; voltage-dependent calcium channel gamma-4 subunit [KO:K04869]
100414635  ATP2A3; sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform X1 [KO:K05853] [EC:7.2.2.10]
100415141  ADCY4; adenylate cyclase type 4 isoform X1 [KO:K08044] [EC:4.6.1.1]
100415165  ADCY3; adenylate cyclase type 3 isoform X1 [KO:K08043] [EC:4.6.1.1]
100415618  CACNB3; voltage-dependent L-type calcium channel subunit beta-3 isoform X3 [KO:K04864]
100415714  EMD; emerin [KO:K12569]
100895717  NOS1; nitric oxide synthase, brain isoform X1 [KO:K13240] [EC:1.14.13.39]
103787209  [KO:K04632]
103793342  CACNG5; voltage-dependent calcium channel gamma-5 subunit isoform X1 [KO:K04870]
103793556  [KO:K06856]
118144171  SSPN; sarcospan isoform X1 [KO:K22194]
118150586  [KO:K05692]
118151333  [KO:K04345] [EC:2.7.11.11]
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
cjc04260  Cardiac muscle contraction
cjc04350  TGF-beta signaling pathway
cjc04512  ECM-receptor interaction
cjc04614  Renin-angiotensin system
cjc05416  Viral myocarditis
KO pathway
ko05414   

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