LncRNA与心脏发育及先天性心脏病的研究进展
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摘要
<正>先天性心脏病(congenital heart disease,CHD)是胚胎期心脏及大血管发育异常所致的先天性畸形,在中国活产儿中,CHD的发生率约为8.98/1000~([1]),虽然治疗进展降低了其病死率,但CHD仍然是婴儿先天畸形死亡的主要原因,且增加坏死性小肠结肠炎等疾病的病死率~([2])。此外,幸存者面临一系列并发症的风险~([3]),研究发现5%～10%的成人先天性心脏病会发展为肺动脉高
引文
[1]Zhao QM,Liu F,Wu L,et al.Prevalence of congenital heart disease at live birth in China[J].J Pediatr,2018,204:53-58.
[2]Kessler U,Hau EM,Kordasz M,et al.Congenital heart disease increases mortality in neonates with necrotizing enterocolitis[J].Front Pediatr,2018,6:312.
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[6]Postma AV,Bezzina CR,Christoffels VM.Genetics of congenital heart disease:the contribution of the noncoding regulatory genome[J].J Hum Genet,2016,61(1):13-19.
[7]Quinn JJ,Chang HY.Unique features of long non-coding RNAbiogenesis and function[J].Nat Rev Genet,2016,17(1):47-62.
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[11]Geisler S,Coller J.RNA in unexpected places:long non-coding RNA functions in diverse cellular contexts[J].Nat Rev Mol Cell Biol,2013,14(11):699-712.
[12]Dykes I,Emanueli C.Transcriptional and post-transcriptional gene regulation by long non-coding RNA[J].Genomics Proteomics Bioinformatics,2017,15(3):177-186.
[13]Marchese FP,Raimondi I,Huarte M.The multidimensional mechanisms of long noncoding RNA function[J].Genome Biol,2017,18(1):206.
[14]Wang Y,Pang WJ,Wei N,et al.Identification,stability and expression of Sirt1 antisense long non-coding RNAs[J].Gene,2014,539(1):117-124.
[15]Klattenhoff CA,Scheuermann JC,Surface LE,et al.Braveheart,a long noncoding RNA required for cardiovascular lineage commitment[J].Cell,2013,152(3):570-583.
[16]Kurian L,Aguirre A,Sancho-Martinez I,et al.Identification of novel long noncoding RNAs underlying vertebrate cardiovascular development[J].Circulation,2015,131(14):1278-1290.
[17]Grote P,Wittler L,Hendrix D,et al.The tissue-specific lncRNA Fendrr is an essential regulator of heart and body wall development in the mouse[J].Dev Cell,24(2):206-214.
[18]Touma M,Kang X,Zhao Y,et al.Decoding the long noncoding RNA during cardiac maturation:A roadmap for functional discovery[J].Circ Cardiovasc Genet,2016,9(5):395-407.
[19]Pandey RR,Mondal T,Mohammad F,et al.Kcnq1ot1 antisense noncoding RNA mediates lineage-specific transcriptional silencing through chromatin-level regulation[J].Mol Cell,2008,32(2):232-246.
[20]Kurian L,Aguirre A,Sancho-Martinez I,et al.Identification of novel long noncoding RNAs underlying vertebrate cardiovascular development[J].Circulation,2015,131(14):1278-1290.
[21]Deng C,Li Y,Zhou L,et al.HoxBline RNA recruits Setl/MLLcomplexes to activate Hox gene expression patterns and mesoderm lineage development[J].Cell Rep,2016,14(1):103-114.
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[24]Anderson KM,Anderson DM,Mcanally JR,et al.Transcription of the non-coding RNA upperhand controls Hand2 expression and heart development[J].Nature,2016,539(7629):433-436.
[25]Cheng Z,Zhang Q,Yin A,et al.The long non-coding RNAuc.4 influences cell differentiation through the TGF-beta signaling pathway[J].Exp Mol Med,2018,50(2):e447.
[26]Zhang Q,Feng M,Zhang H,et al.Long noncoding RNA uc.4inhibits cell differentiation in heart development by altering DNAmethylation[J].J Cell Biochem,2018,[Epub ahead of print].
[27]Zhu S,Hu X,Han S,et al.Differential expression profile of long non-coding RNAs during differentiation of cardiomyocytes[J].Int J Med Sci,2014,11(5):500-507.
[28]Wang L,Ma X,Xu X,et al.Systematic identification and characterization of cardiac long intergenic noncoding RNAs in zebrafish[J].Sci Rep,2017,7(1):1250.
[29]Spicer DE,Hsu HH,Co-Vu J,et al.Ventricular septal defect[J].Orphanet J Rare Dis,2014,9:144.
[30]Song G,Shen Y,Zhu J,et al.Integrated analysis of dysregulated lncRNA expression in fetal cardiac tissues with ventricular septal defect[J].PLoS One,2013,8(10):e77492.
[31]Song G1,Shen Y,Ruan Z,et al.LncRNA-uc.167 influences cell proliferation,apoptosis and differentiation of P19 cells by regulating Mef2c[J].Gene,2016,590(1):97-108.
[32]Li H,Jiang L,Yu Z,et al.The role of a novel long noncoding RNA TUC40-in cardiomyocyte induction and maturation in P19 cells[J].Am J Med Sci,2017,354(6):608-616.
[33]Tretter JT,Redington AN.Risk factors and biomarkers of poor outcomes[J].Circulation,2018,138(19):2116-2118.
[34]Wang Q,Wang Z,Wu C,et al.Potential association of long noncoding RNA HA117 with tetralogy of Fallot[J].Genes Dis,2018,5(2):185-190.
[35]Yang W,Li Y,He F,et al.Microarray profiling of long noncoding RNA(lncRNA)associated with hypertrophic cardiomyopathy[J].BMC Cardiovasc Disord,2015,15:62.
[36]Gómez J,Lorca R,Reguero JR,et al.Genetic variation at the long noncoding RNA H19 gene is associated with the risk of hypertrophic cardiomyopathy[J].Epigenomics,2018,10(7):865-873.
[37]Kitow J,Derda AA,Beermann J,et al.Mitochondrial long noncoding RNAs as blood based biomarkers for cardiac remodeling in patients with hypertrophic cardiomyopathy[J].Am JPhysiol Heart Circ Physiol,2016,311(3):H707-712.
[38]Jiang Y,Mo H,Luo J,et al.HOTAIR is a potential novel biomarker in patients with congenital heart diseases[J].BioMed Res Int,2018,2018:2850657.
[39]Gu M,Zheng A,Tu W,et al.Circulating LncRNAs as novel,non-invasive biomarkers for prenatal detection of fetal congenital heart defects[J].Cell Physiol Biochem,2016,38(4):1459-1471.
[40]Buber J,Valente AM.Predicting survival in adults with congenital heart disease:what are the odds?[J].Heart,2018,104(20):1643-1644.
[41]Wang JK,Chiu SN,Lin MT,et al.Mid-to-long-term follow-up results of transcatheter closure of atrial septal defect in patients older than 40 years[J].Heart Vessels,2017,32(4):467-473.
[42]Houck CA,Evertz R,Teuwen CP,et al.Dysrhythmias in patients with a complete atrioventricular septal defect:From surgery to early adulthood[J].Congenit Heart Dis,2019,14(2):280-287.
[43]Salamanca-Zarzuela B,Morales-Luego F,Alcalde-Martin C,et al.Psychomotor development in patients with severe congenital heart disease[J].Rev Neurol,2018,66(12):409-414.
[2]Kessler U,Hau EM,Kordasz M,et al.Congenital heart disease increases mortality in neonates with necrotizing enterocolitis[J].Front Pediatr,2018,6:312.
[3]Hoang TT,Goldmuntz E,Roberts AE,et al.The congenital heart disease genetic network study:Cohort description[J].PLoS One,2018,13(1):e0191319.
[4]Drakopoulou M,Nashat H,Kempny A,et al.Arrhythmias in adult patients with congenital heart disease and pulmonary arterial hypertension[J].Heart,2018,104(23):1963-1969.
[5]Tian G,Gao H,Hu S,et al.Research progress on genetic and epigenetic mechanisms in congenital heart disease[J].Zhejiang Da Xue Xue Bao Yi Xue Ban,2018,47(3):227-238.
[6]Postma AV,Bezzina CR,Christoffels VM.Genetics of congenital heart disease:the contribution of the noncoding regulatory genome[J].J Hum Genet,2016,61(1):13-19.
[7]Quinn JJ,Chang HY.Unique features of long non-coding RNAbiogenesis and function[J].Nat Rev Genet,2016,17(1):47-62.
[8]Scheuermann JC,Boyer LA.Getting to the heart of the matter:long non-coding RNAs in cardiac development and disease[J].EMBO J,2013,32(13):1805-1816.
[9]Beermann J,Piccoli MT,Viereck J,et al.Non-coding RNAs in development and disease:Background,mechanisms,and therapeutic approaches[J].Physiol Rev,2016,96(4):1297-1325.
[10]Derrien T,Johnson R,Bussotti G,et al.The GENCODE v7 catalog of human long noncoding RNAs:analysis of their gene structure,evolution,and expression[J].Genome Res,2012,22(9):1775-1789.
[11]Geisler S,Coller J.RNA in unexpected places:long non-coding RNA functions in diverse cellular contexts[J].Nat Rev Mol Cell Biol,2013,14(11):699-712.
[12]Dykes I,Emanueli C.Transcriptional and post-transcriptional gene regulation by long non-coding RNA[J].Genomics Proteomics Bioinformatics,2017,15(3):177-186.
[13]Marchese FP,Raimondi I,Huarte M.The multidimensional mechanisms of long noncoding RNA function[J].Genome Biol,2017,18(1):206.
[14]Wang Y,Pang WJ,Wei N,et al.Identification,stability and expression of Sirt1 antisense long non-coding RNAs[J].Gene,2014,539(1):117-124.
[15]Klattenhoff CA,Scheuermann JC,Surface LE,et al.Braveheart,a long noncoding RNA required for cardiovascular lineage commitment[J].Cell,2013,152(3):570-583.
[16]Kurian L,Aguirre A,Sancho-Martinez I,et al.Identification of novel long noncoding RNAs underlying vertebrate cardiovascular development[J].Circulation,2015,131(14):1278-1290.
[17]Grote P,Wittler L,Hendrix D,et al.The tissue-specific lncRNA Fendrr is an essential regulator of heart and body wall development in the mouse[J].Dev Cell,24(2):206-214.
[18]Touma M,Kang X,Zhao Y,et al.Decoding the long noncoding RNA during cardiac maturation:A roadmap for functional discovery[J].Circ Cardiovasc Genet,2016,9(5):395-407.
[19]Pandey RR,Mondal T,Mohammad F,et al.Kcnq1ot1 antisense noncoding RNA mediates lineage-specific transcriptional silencing through chromatin-level regulation[J].Mol Cell,2008,32(2):232-246.
[20]Kurian L,Aguirre A,Sancho-Martinez I,et al.Identification of novel long noncoding RNAs underlying vertebrate cardiovascular development[J].Circulation,2015,131(14):1278-1290.
[21]Deng C,Li Y,Zhou L,et al.HoxBline RNA recruits Setl/MLLcomplexes to activate Hox gene expression patterns and mesoderm lineage development[J].Cell Rep,2016,14(1):103-114.
[22]Zhao J,Li L,Peng L.MAPK1 up-regulates the expression of MALAT1 to promote the proliferation of cardiomyocytes through PI3K/AKT signaling pathway[J].Int J Clin Exp Pathol,2015,8(12):15947-15953.
[23]Han Y,Xu H,Cheng J,et al.Downregulation of long non-coding RNA H19 promotes P19CL6 cells proliferation and inhibits apoptosis during late-stage cardiac differentiation via miR-19b-modulated Sox6[J].Cell Biosci,2016,6:58.
[24]Anderson KM,Anderson DM,Mcanally JR,et al.Transcription of the non-coding RNA upperhand controls Hand2 expression and heart development[J].Nature,2016,539(7629):433-436.
[25]Cheng Z,Zhang Q,Yin A,et al.The long non-coding RNAuc.4 influences cell differentiation through the TGF-beta signaling pathway[J].Exp Mol Med,2018,50(2):e447.
[26]Zhang Q,Feng M,Zhang H,et al.Long noncoding RNA uc.4inhibits cell differentiation in heart development by altering DNAmethylation[J].J Cell Biochem,2018,[Epub ahead of print].
[27]Zhu S,Hu X,Han S,et al.Differential expression profile of long non-coding RNAs during differentiation of cardiomyocytes[J].Int J Med Sci,2014,11(5):500-507.
[28]Wang L,Ma X,Xu X,et al.Systematic identification and characterization of cardiac long intergenic noncoding RNAs in zebrafish[J].Sci Rep,2017,7(1):1250.
[29]Spicer DE,Hsu HH,Co-Vu J,et al.Ventricular septal defect[J].Orphanet J Rare Dis,2014,9:144.
[30]Song G,Shen Y,Zhu J,et al.Integrated analysis of dysregulated lncRNA expression in fetal cardiac tissues with ventricular septal defect[J].PLoS One,2013,8(10):e77492.
[31]Song G1,Shen Y,Ruan Z,et al.LncRNA-uc.167 influences cell proliferation,apoptosis and differentiation of P19 cells by regulating Mef2c[J].Gene,2016,590(1):97-108.
[32]Li H,Jiang L,Yu Z,et al.The role of a novel long noncoding RNA TUC40-in cardiomyocyte induction and maturation in P19 cells[J].Am J Med Sci,2017,354(6):608-616.
[33]Tretter JT,Redington AN.Risk factors and biomarkers of poor outcomes[J].Circulation,2018,138(19):2116-2118.
[34]Wang Q,Wang Z,Wu C,et al.Potential association of long noncoding RNA HA117 with tetralogy of Fallot[J].Genes Dis,2018,5(2):185-190.
[35]Yang W,Li Y,He F,et al.Microarray profiling of long noncoding RNA(lncRNA)associated with hypertrophic cardiomyopathy[J].BMC Cardiovasc Disord,2015,15:62.
[36]Gómez J,Lorca R,Reguero JR,et al.Genetic variation at the long noncoding RNA H19 gene is associated with the risk of hypertrophic cardiomyopathy[J].Epigenomics,2018,10(7):865-873.
[37]Kitow J,Derda AA,Beermann J,et al.Mitochondrial long noncoding RNAs as blood based biomarkers for cardiac remodeling in patients with hypertrophic cardiomyopathy[J].Am JPhysiol Heart Circ Physiol,2016,311(3):H707-712.
[38]Jiang Y,Mo H,Luo J,et al.HOTAIR is a potential novel biomarker in patients with congenital heart diseases[J].BioMed Res Int,2018,2018:2850657.
[39]Gu M,Zheng A,Tu W,et al.Circulating LncRNAs as novel,non-invasive biomarkers for prenatal detection of fetal congenital heart defects[J].Cell Physiol Biochem,2016,38(4):1459-1471.
[40]Buber J,Valente AM.Predicting survival in adults with congenital heart disease:what are the odds?[J].Heart,2018,104(20):1643-1644.
[41]Wang JK,Chiu SN,Lin MT,et al.Mid-to-long-term follow-up results of transcatheter closure of atrial septal defect in patients older than 40 years[J].Heart Vessels,2017,32(4):467-473.
[42]Houck CA,Evertz R,Teuwen CP,et al.Dysrhythmias in patients with a complete atrioventricular septal defect:From surgery to early adulthood[J].Congenit Heart Dis,2019,14(2):280-287.
[43]Salamanca-Zarzuela B,Morales-Luego F,Alcalde-Martin C,et al.Psychomotor development in patients with severe congenital heart disease[J].Rev Neurol,2018,66(12):409-414.