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Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations.

Kirchner F, Schuetz A, Boldt LH, Martens K, Dittmar G, Haverkamp W, Thierfelder L, Heinemann U, Gerull B
Circ Cardiovasc Genet 5 400-11 (2012)
Cited: 44 times
EuropePMC logo PMID: 22781308

Abstract

Background

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disorder mainly caused by dominant mutations in several components of the cardiac desmosome including plakophilin-2 (PKP2), the most prevalent disease gene. Little is known about the underlying genetic and molecular mechanisms of missense mutations located in the armadillo (ARM) domains of PKP2, as well as their consequences on human cardiac pathology.

Conclusion

The p.C796R and other ARVC-related PKP2 mutations indicate loss of function effects by intrinsic instability and calpain proteases mediated degradation in in vitro model systems, suggesting haploinsufficiency as the most likely cause for the genesis of dominant ARVC due to mutations in PKP2.

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  1. Mechanistic basis of desmosome-targeted diseases. Al-Jassar C, Bikker H, Overduin M, Chidgey M. J Mol Biol 425 4006-4022 (2013)

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  1. Molecular mechanisms of arrhythmogenic cardiomyopathy. Austin KM, Trembley MA, Chandler SF, Sanders SP, Saffitz JE, Abrams DJ, Pu WT. Nat Rev Cardiol 16 519-537 (2019)
  2. Desmosome regulation and signaling in disease. Broussard JA, Getsios S, Green KJ. Cell Tissue Res 360 501-512 (2015)
  3. Beyond cell-cell adhesion: Plakoglobin and the regulation of tumorigenesis and metastasis. Aktary Z, Alaee M, Pasdar M. Oncotarget 8 32270-32291 (2017)
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  5. Intercalated discs: cellular adhesion and signaling in heart health and diseases. Zhao G, Qiu Y, Zhang HM, Yang D. Heart Fail Rev 24 115-132 (2019)
  6. Insights Into Genetics and Pathophysiology of Arrhythmogenic Cardiomyopathy. Gerull B, Brodehl A. Curr Heart Fail Rep 18 378-390 (2021)
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  8. Genetic Animal Models for Arrhythmogenic Cardiomyopathy. Gerull B, Brodehl A. Front Physiol 11 624 (2020)
  9. Arrhythmogenic Cardiomyopathy: Molecular Insights for Improved Therapeutic Design. Stevens TL, Wallace MJ, Refaey ME, Roberts JD, Koenig SN, Mohler PJ. J Cardiovasc Dev Dis 7 E21 (2020)
  10. Bridging scales through multiscale modeling: a case study on protein kinase A. Boras BW, Hirakis SP, Votapka LW, Malmstrom RD, Amaro RE, McCulloch AD. Front Physiol 6 250 (2015)
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  12. Atomic Force Microscopy (AFM) Applications in Arrhythmogenic Cardiomyopathy. Peña B, Adbel-Hafiz M, Cavasin M, Mestroni L, Sbaizero O. Int J Mol Sci 23 3700 (2022)
  13. Mechanotransduction and Adrenergic Stimulation in Arrhythmogenic Cardiomyopathy: An Overview of in vitro and in vivo Models. Beffagna G, Sommariva E, Bellin M. Front Physiol 11 568535 (2020)
  14. Calpain Regulation and Dysregulation-Its Effects on the Intercalated Disk. Yoder MW, Wright NT, Borzok MA. Int J Mol Sci 24 11726 (2023)
  15. Disease modeling of desmosome-related cardiomyopathy using induced pluripotent stem cell-derived cardiomyocytes. Higo S. World J Stem Cells 15 71-82 (2023)
  16. Proteomics research of SARS-CoV-2 and COVID-19 disease. Zhang N, Wang S, Wong CCL. Med Rev (2021) 2 427-445 (2022)

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  1. The hippo pathway is activated and is a causal mechanism for adipogenesis in arrhythmogenic cardiomyopathy. Chen SN, Gurha P, Lombardi R, Ruggiero A, Willerson JT, Marian AJ. Circ Res 114 454-468 (2014)
  2. Plakophilin-2 loss promotes TGF-β1/p38 MAPK-dependent fibrotic gene expression in cardiomyocytes. Dubash AD, Kam CY, Aguado BA, Patel DM, Delmar M, Shea LD, Green KJ. J Cell Biol 212 425-438 (2016)
  3. Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. Gerull B, Kirchner F, Chong JX, Tagoe J, Chandrasekharan K, Strohm O, Waggoner D, Ober C, Duff HJ. Circ Cardiovasc Genet 6 327-336 (2013)
  4. The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus. Milting H, Klauke B, Christensen AH, Müsebeck J, Walhorn V, Grannemann S, Münnich T, Šarić T, Rasmussen TB, Jensen HK, Mogensen J, Baecker C, Romaker E, Laser KT, zu Knyphausen E, Kassner A, Gummert J, Judge DP, Connors S, Hodgkinson K, Young TL, van der Zwaag PA, van Tintelen JP, Anselmetti D. Eur Heart J 36 872-881 (2015)
  5. Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis. Rasmussen TB, Nissen PH, Palmfeldt J, Gehmlich K, Dalager S, Jensen UB, Kim WY, Heickendorff L, Mølgaard H, Jensen HK, Baandrup UT, Bross P, Mogensen J. Circ Cardiovasc Genet 7 230-240 (2014)
  6. Patient mutations linked to arrhythmogenic cardiomyopathy enhance calpain-mediated desmoplakin degradation. Ng R, Manring H, Papoutsidakis N, Albertelli T, Tsai N, See CJ, Li X, Park J, Stevens TL, Bobbili PJ, Riaz M, Ren Y, Stoddard CE, Janssen PM, Bunch TJ, Hall SP, Lo YC, Jacoby DL, Qyang Y, Wright N, Ackermann MA, Campbell SG. JCI Insight 5 128643 (2019)
  7. Plakophilin 3 mediates Rap1-dependent desmosome assembly and adherens junction maturation. Todorovic V, Koetsier JL, Godsel LM, Green KJ. Mol Biol Cell 25 3749-3764 (2014)
  8. High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation. Klauke B, Gaertner-Rommel A, Schulz U, Kassner A, Zu Knyphausen E, Laser T, Kececioglu D, Paluszkiewicz L, Blanz U, Sandica E, van den Bogaerdt AJ, van Tintelen JP, Gummert J, Milting H. PLoS One 12 e0189489 (2017)
  9. Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction. Ramond F, Janin A, Di Filippo S, Chanavat V, Chalabreysse L, Roux-Buisson N, Sanlaville D, Touraine R, Millat G. Clin Genet 91 126-130 (2017)
  10. Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset. Brodehl A, Meshkov A, Myasnikov R, Kiseleva A, Kulikova O, Klauke B, Sotnikova E, Stanasiuk C, Divashuk M, Pohl GM, Kudryavtseva M, Klingel K, Gerull B, Zharikova A, Gummert J, Koretskiy S, Schubert S, Mershina E, Gärtner A, Pilus P, Laser KT, Sinitsyn V, Boytsov S, Drapkina O, Milting H. Int J Mol Sci 22 3786 (2021)
  11. Surfaceome Proteomic of Glioblastoma Revealed Potential Targets for Immunotherapy. Rose M, Cardon T, Aboulouard S, Hajjaji N, Kobeissy F, Duhamel M, Fournier I, Salzet M. Front Immunol 12 746168 (2021)
  12. The genetic architecture of Plakophilin 2 cardiomyopathy. Dries AM, Kirillova A, Reuter CM, Garcia J, Zouk H, Hawley M, Murray B, Tichnell C, Pilichou K, Protonotarios A, Medeiros-Domingo A, Kelly MA, Baras A, Ingles J, Semsarian C, Bauce B, Celeghin R, Basso C, Jongbloed JDH, Nussbaum RL, Funke B, Cerrone M, Mestroni L, Taylor MRG, Sinagra G, Merlo M, Saguner AM, Elliott PM, Syrris P, van Tintelen JP, Regeneron Genetics Center, James CA, Haggerty CM, Parikh VN. Genet Med 23 1961-1968 (2021)
  13. Function of a novel plakophilin-2 mutation in the abnormal expression of connexin43 in a patient with arrhythmogenic right ventricular cardiomyopathy. Wang PN, Wu SL, Zhang B, Lin QX, Shan ZX. Exp Ther Med 9 967-971 (2015)
  14. Sequencing of Linkage Region on Chromosome 12p11 Identifies PKP2 as a Candidate Gene for Left Ventricular Mass in Dominican Families. Dueker ND, Guo S, Beecham A, Wang L, Blanton SH, Di Tullio MR, Rundek T, Sacco RL. G3 (Bethesda) 8 659-668 (2018)
  15. Comment Skin-heart connection: what can the epidermis tell us about the myocardium in arrhythmogenic cardiomyopathy? Gerull B. Circ Cardiovasc Genet 7 225-227 (2014)
  16. Arrhythmogenic cardiomyopathy: Identification of desmosomal gene variations and desmosomal protein expression in variation carriers. Wang L, Liu S, Zhang H, Hu S, Wei Y. Exp Ther Med 15 2255-2262 (2018)
  17. Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers. Svensson A, Platonov PG, Haugaa KH, Zareba W, Jensen HK, Bundgaard H, Gilljam T, Madsen T, Hansen J, Dejgaard LA, Karlsson LO, Gréen A, Polonsky B, Edvardsen T, Svendsen JH, Gunnarsson C. Cardiology 146 763-771 (2021)
  18. Spatiotemporal cell junction assembly in human iPSC-CM models of arrhythmogenic cardiomyopathy. Kim SL, Trembley MA, Lee KY, Choi S, MacQueen LA, Zimmerman JF, de Wit LHC, Shani K, Henze DE, Drennan DJ, Saifee SA, Loh LJ, Liu X, Parker KK, Pu WT. Stem Cell Reports 18 1811-1826 (2023)
  19. Comment Unraveling Missing Genes and Missing Inheritance in Arrhythmogenic Cardiomyopathy. Chen SN, Taylor MRG, Mestroni L. Circ Arrhythm Electrophysiol 10 e005813 (2017)
  20. DiscoVari: A Web-Based Precision Medicine Tool for Predicting Variant Pathogenicity in Cardiomyopathy- and Channelopathy-Associated Genes. Kurzlechner LM, Kishnani S, Chowdhury S, Atkins SL, Moya-Mendez ME, Parker LE, Rosamilia MB, Tadros HJ, Pace LA, Patel V, Chahal CAA, Landstrom AP. Circ Genom Precis Med 16 317-327 (2023)
  21. Comment Assessing the significance of pathogenic mutations and autopsy findings in the light of 2010 arrhythmogenic right ventricular cardiomyopathy diagnostic criteria: a clinical challenge. Pilichou K, Thiene G, Basso C. Circ Cardiovasc Genet 5 384-386 (2012)
  22. Microtubule plus-end tracking proteins: novel modulators of cardiac sodium channels and arrhythmogenesis. Marchal GA, Galjart N, Portero V, Remme CA. Cardiovasc Res 119 1461-1479 (2023)


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