Epigenetik und Genetik der pulmonal arteriellen Hypertonie – neue Erkenntnisse der letzten Jahre

Schlüsselwörter

Epigenetik - Histon - miRNA - Methylierung - KCNK3 - BMPR2

Keywords

epigenetics - histone - miRNA - methylation - KCNK3 - BMPR2

• Literatur

• 1 Saco TV, Parthasarathy PT, Cho Y et al. Role of epigenetics in pulmonary hypertension. Am J Physiol Cell physiol 2014; 306: C1101-5
• 2 Xu XF, Cheng F, Du LZ. Epigenetic regulation of pulmonary arterial hypertension. Hypertension Res 2011; 34: 981-6
• 3 Archer SL, Marsboom G, Kim GH et al. Epigenetic attenuation of mitochondrial superoxide dismutase 2 in pulmonary arterial hypertension: a basis for excessive cell proliferation and a new therapeutic target. Circulation 2010; 121: 2661-71
• 4 Bogaard HJ, Mizuno S, Hussaini AA et al. Suppression of histone deacetylases worsens right ventricular dysfunction after pulmonary artery banding in rats. Am J Respir Crit Care Med 2011; 183: 1402-10
• 5 Zhao L, Chen CN, Hajji N et al. Histone deacetylation inhibition in pulmonary hypertension: therapeutic potential of valproic acid and suberoylanilide hydroxamic acid. Circulation 2012; 126: 455-67
• 6 Cavasin MA, Demos-Davies K, Horn TR et al. Selective class I histone deacetylase inhibition suppresses hypoxia-induced cardiopulmonary remodeling through an antiproliferative mechanism. Circulation Res 2012; 110: 739-48
• 7 Galletti M, Cantoni S, Zambelli F et al. Dissecting histone deacetylase role in pulmonary arterial smooth muscle cell proliferation and migration. Biochem Pharmacol 2014; 91: 181-90
• 8 Lee RC, Feinbaum RL, Ambros V. The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14. Cell 1993; 75: 843-54
• 9 Hayes J, Peruzzi PP, Lawler S. MicroRNAs in cancer: biomarkers, functions and therapy. Trends Molec Med 2014; 20: 460-9
• 10 Li Z, Rana TM. Therapeutic targeting of microRNAs: current status and future challenges. Nature Rev Drug Discovery 2014; 13: 622-38
• 11 Lewis BP, Burge CB, Bartel DP. Conserved seed pairing, often flanked by adenosines, indicates that thousands of human genes are microRNA targets. Cell 2005; 120: 15-20
• 12 Pullamsetti SS, Doebele C, Fischer A et al. Inhibition of microRNA-17 improves lung and heart function in experimental pulmonary hypertension. Am J Respir Crit Care Med 2012; 185: 409-19
• 13 Brock M, Samillan VJ, Trenkmann M et al. AntagomiR directed against miR-20a restores functional BMPR2 signalling and prevents vascular remodelling in hypoxia-induced pulmonary hypertension. Eur Heart J 2012;
• 14 Schlosser K, White RJ, Stewart DJ. miR-26a linked to pulmonary hypertension by global assessment of circulating extracellular microRNAs. Am J Respir Crit Care Med 2013; 188: 1472-5
• 15 Kang K, Peng X, Zhang X et al. MicroRNA-124 suppresses the transactivation of nuclear factor of activated T cells by targeting multiple genes and inhibits the proliferation of pulmonary artery smooth muscle cells. J Biol Chem 2013; 288: 25414-27
• 16 Pohl NM, Fernandez RA, Smith KA et al. Deacetylation of MicroRNA-124 in fibroblasts: role in pulmonary hypertension. Circulation Res 2014; 114: 5-8
• 17 Wang D, Zhang H, Li M et al. MicroRNA-124 controls the proliferative, migratory, and inflammatory phenotype of pulmonary vascular fibroblasts. Circulation Res 2014; 114: 67-78
• 18 Bertero T, Lu Y, Annis S et al. Systems-level regulation of microRNA networks by miR-130/301 promotes pulmonary hypertension. J Clin Invest 2014; 124: 3514-28
• 19 Caruso P, Dempsie Y, Stevens HC et al. A role for miR-145 in pulmonary arterial hypertension: evidence from mouse models and patient samples. Circulation Res 2012; 111: 290-300
• 20 Rhodes CJ, Wharton J, Boon RA et al. Reduced microRNA-150 is associated with poor survival in pulmonary arterial hypertension. Am J Respir Crit Care Med 2013; 187: 294-302
• 21 Courboulin A, Paulin R, Giguere NJ et al. Role for miR-204 in human pulmonary arterial hypertension. J Exp Med 2011; 208: 535-48
• 22 Brock M, Trenkmann M, Gay RE et al. Interleukin-6 modulates the expression of the bone morphogenic protein receptor type II through a novel STAT3-microRNA cluster 17/92 pathway. Circulation Res 2009; 104: 1184-91
• 23 Drake KM, Dunmore BJ, McNelly LN et al. Correction of nonsense BMPR2 and SMAD9 mutations by ataluren in pulmonary arterial hypertension. Am J Respir Cell Mol Biol 2013; 49: 403-9
• 24 Boettger T, Beetz N, Kostin S et al. Acquisition of the contractile phenotype by murine arterial smooth muscle cells depends on the Mir143/145 gene cluster. J Clinical Invest 2009; 119: 2634-47
• 25 Dunmore BJ, Drake KM, Upton PD et al. The lysosomal inhibitor, chloroquine, increases cell surface BMPR-II levels and restores BMP9 signalling in endothelial cells harbouring BMPR-II mutations. Hum Molec Genet 2013; 22: 3667-79
• 26 Deng Z, Morse JH, Slager SL et al. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. Am J Hum Genet 2000; 67: 737-44
• 27 International PPHC, Lane KB, Machado RD et al. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Nature genetics 2000; 26: 81-4
• 28 Soubrier F, Chung WK, Machado R et al. Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol 2013; 62: D13-21
• 29 Machado RD, Koehler R, Glissmeyer E et al. Genetic association of the serotonin transporter in pulmonary arterial hypertension. Am J Respir Crit Care Med 2006; 173: 793-7
• 30 Chaouat A, Coulet F, Favre C et al. Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension. Thorax 2004; 59: 446-8
• 31 Trembath RC, Thomson JR, Machado RD et al. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. NEJM 2001; 345: 325-34
• 32 Pfarr N, Fischer C, Ehlken N et al. Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension. Respir Res 2013; 14: 3
• 33 Pfarr N, Szamalek-Hoegel J, Fischer C et al. Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations. Respir Res 2011; 12: 99
• 34 Hinderhofer K, Fischer C, Pfarr N et al. Identification of a new intronic BMPR2-mutation and early diagnosis of heritable pulmonary arterial hypertension in a large family with mean clinical follow-up of 12 years. PLoS One 2014; 9: e91374
• 35 Nasim MT, Ogo T, Ahmed M et al. Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension. Human Mutation 2011; 32: 1385-9
• 36 Austin ED, Ma L, LeDuc C et al. Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension. Circ Cardiovasc Genet 2012; 5: 336-43
• 37 Eyries M, Montani D, Girerd B et al. EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. Nature Genetics 2014; 46: 65-9
• 38 Olschewski A, Papp R, Nagaraj C et al. Ion channels and transporters as therapeutic targets in the pulmonary circulation. Pharmacol Therapeutics 2014;
• 39 Olschewski A, Li Y, Tang B et al. Impact of TASK-1 in human pulmonary artery smooth muscle cells. Circulation Res 2006; 98: 1072-80
• 40 Li Y, Connolly M, Nagaraj C et al. Peroxisome proliferator-activated receptor-beta/delta, the acute signaling factor in prostacyclin-induced pulmonary vasodilation. Am J Resp Cell Molec Biol 2012; 46: 372-9
• 41 Nagaraj C, Tang B, Balint Z et al. Src tyrosine kinase is crucial for potassium channel function in human pulmonary arteries. Eur Respir J 2013; 41: 85-95
• 42 Tang B, Li Y, Nagaraj C et al. Endothelin-1 inhibits background two-pore domain channel TASK-1 in primary human pulmonary artery smooth muscle cells. Am J Resp Cell Molec Biol 2009; 41: 476-83
• 43 Ma L, Roman-Campos D, Austin ED et al. A novel channelopathy in pulmonary arterial hypertension. NEJM 2013; 369: 351-61
• 44 Alastalo TP, Li M, de Perez VJ et al. Disruption of PPARgamma/beta-catenin-mediated regulation of apelin impairs BMP-induced mouse and human pulmonary arterial EC survival. J Clin Invest 2011; 121: 3735-46
• 45 Rabinovitch M. Molecular pathogenesis of pulmonary arterial hypertension. J Clin Invest 2012; 122: 4306-13
• 46 Upton PD, Davies RJ, Tajsic T et al. Transforming growth factor-beta(1) represses bone morphogenetic protein-mediated Smad signaling in pulmonary artery smooth muscle cells via Smad3. Am J Resp Cell Molec Biol 2013; 49: 1135-45
• 47 Yamamura H, Yamamura A, Ko EA et al. Activation of Notch signaling by short-term treatment with Jagged-1 enhances store-operated Ca(2+) entry in human pulmonary arterial smooth muscle cells. Am J Physiol Cell Physiol 2014; 306: C871-8
• 48 Müller T, Grünig E, Kebbewar M et al. Familiäre pulmonal arterielle Hypertonie. medgen 2006; 18: 318-23