病态窦房结综合征相关基因的多肽性研究
范宁,任明
摘要(Abstract):
<正>在正常生理状态下,由窦房结来主导整个心脏的节律性活动,当窦房结发生病理改变或生理功能受损时,临床上会出现心律失常和临床综合征(窦性心动过缓、窦房阻滞、窦性停搏和心动过缓-心动过速综合征),称之为病态窦房结综合征。引起病态窦房结综合征的原因有很多,特发性硬化、冠心病、心肌病、心肌炎、风湿性心脏病、外科手术、高血压病等基础
关键词(KeyWords): 病态窦房结综合征;基因;窦性停搏;生物起搏
基金项目(Foundation): 青海省卫生和计划生育委员会指导性课题(2018-wjzdx-94)
作者(Author): 范宁,任明
参考文献(References):
- [1]陈新,汪康平.窦性心律失常和病态窦房结综合征.临床心律失常学电生理和治疗.北京:人民卫生出版社,2000:616-617.
- [2]赵允梓.AKAP10与汉族人群病态窦房结综合征综合征的关联研究及其新的突变型致病态窦房结综合征的机制研究.北京协和医学院,2014.
- [3]Lee YS,Olaopa MA,Jung BC,et al.Genetic Variation of SCN5A in Korean patients with sick sinus syndrome.Korean Circ J,2016,46(1):63-71.
- [4]Ishikawa T,Ohno S,Murakami T,et al.Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fi brillation and left ventricular noncompaction.Heart Rhythm,2017,14(5):717-724.
- [5]Scott JD,Dessauer CW,Taskén K.Creating order from chaos:cellular regulation by kinase anchoring.Annu Rev Pharmacol Toxicol,2013,53:187-210.
- [6]Diviani D,Maric D,Pérez López I,et al.A-kinase anchoring proteins:molecular regulators of the cardiac stress response.Biochim Biophys Acta,2013,1833(4):901-908.
- [7]Skroblin P,Grossmann S,Sch?fer G,et al.Mechanisms of protein kinase a anchoring.Int Rev Cell Mol Biol,2010,283:235-330.
- [8]?oniewska B,Kaczmarczyk M,Clark JS,et al.Association of1936A>G in AKAP10(A-kinase anchoring protein 10)and blood pressure in Polish full-term newborns.Blood Press,2013,22(1):51-56.
- [9]滕林,周飞,曹春雨,等.HCN4在缺血诱导乳兔窦房结细胞损伤中的作用,临床心血管病杂志,2017,33(12):1218-1222.
- [10]Chandler NJ,Greener ID,Tellez JO,et al.Molecular architecture of the human sinus node:insights into the function of the cardiac pacemaker.Circulation,2009,119(12):1562-1575.
- [11]萧永福,Chandler N,Dobrzynski H,等.人HCN4通道的滞后现象:影响窦房结起搏的潜在决定因素.生活学报,2010,62(1):1-13.
- [12]Hofmann F,Biel M,Kaupp UB.International Union of Pharmacology.LI.Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels.Pharmacol Rev,2005,57(4):455-462.
- [13]Stieber J,Thomer A,Much B,et al.Molecular basis for the diff erent activation kinetics of the pacemaker channels HCN2 and HCN4.J Biol Chem,2003,278(36):33672-33680.
- [14]Tsang SY,Lesso H,Li RA.Dissecting the structural a nd f u nctional roles of t he S3-S4 lin ker of pacema ker(hyperpolarization-activated cyclic nucleotide-modulated)channels by systematic length alterations.J Biol Chem,2004,279(42):43752-43759.
- [15]Accili EA,Proenza C,Baruscotti M,et al.From funny current to HCN channels:20 years of excitation.News Physiol Sci,2002,17:32-37.
- [16]Stieber J,Hofmann F,Ludwig A.Pacemaker channels and sinus node arrhythmia.Trends Cardiovasc Med,2004,14(1):23-28.
- [17]Jou CJ,Arrington CB,Barnett S,et al.A functional assay for sick sinus syndrome genetic variants.Cell Physiol Biochem,2017,42(5):2021-2029.
- [18]李继文,郭继鸿,张萍,等.起博通道基因亚型HCN4重组腺病毒载体的构建及通道电流检测.中国心脏起搏与心电生理杂志.2006,20(1):58-62.
- [19]仝识非,宋治远,姚青,等.mHCN4基因修饰小鼠骨髓间充质干细胞重建起博离子流通道.中国心脏起搏与心电生理杂志.2007,21(1):51-54.
- [20]王妮娜,刘如秀.窦房结细胞起搏基因HCN4的研究进展.医学综述.2011,17(10):1-4.
- [21]Mesirca P,Bidaud I,Mangoni ME.Rescuing cardiac automaticity in L-type Cav1.3 channelopathies and beyond.J Physiol,2016,594(20):5869-5879.
- [22]Alig J,Marger L,Mesirca P,et al.Control of heart rate by cAMPsensitivity of HCN channels.Proc Natl Acad Sci USA,2009,106(29):12189-12194.
- [23]Liu J,Liu R,Peng J,et al.Effects of yiqi tongyang on hcn4protein phosphorylation in damaged rabbit sinoatrial node cells.Evid Based Complement Alternat Med,2016,2016:4379139.
- [24]Ueda K,Nakamura K,Hayashi T,et al.Functional characterization of a trafficking-defective HCN4 mutation,D553N,associated with cardiac arrhythmia.J Biol Chem,2004,279(26):27194-27198.
- [25]Asadi M,Foo R,Bhuiyan ZA,et al.Genetic analysis of cardiac SCN5A Gene in Iranian patients with hereditary cardiac arrhythmias.Anatol J Cardiol,2016,16(3):170-174.
- [26]Jurkat-Rott K,Mitrovic N,Hang C,et al.Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.Proc Natl Acad Sci USA,2000,97(17):9549-9554.
- [27]Gui J,Wang T,Jones RP,et al.Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.PLoS One,2010,5(6):e10985.
- [28]Makita N,Sasaki K,Groenewegen WA,et al.Congenital atrial standstill associated with coinheritance of a novel SCN5Amutation and connexin 40 polymorphisms.Heart Rhythm,2005,2(10):1128-1134.
- [29]Smits JP,Koopmann TT,Wilders R,et al.A mutation in the human cardiac sodium channel(E161K)contributes to sick sinus syndrome,conduction disease and Brugada syndrome in two families.J Mol Cell Cardiol,2005,38(6):969-981.
- [30]Makiyama T,Akao M,Tsuji K,et al.High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5Agene mutations.J Am Coll Cardiol,2005,46(11):2100-2106.
- [31]刘鸿,邱龄.干细胞移植治疗病态窦房结综合征.心血管病学进展,2010,31(3):457-460.
- [32]Thomson JA,Itskovitz-Eldor J,Shapiro SS,et al.Embryonic stem cell lines derived from human blastocysts.Science,1998,282(5391):1145-1147.
- [33]Kehat I,Kenyagin-Karsenti D,Snir M,et al.Human embryonic stem cells can differentiate into myocytes with structural and functional properties of cardiomyocytes.J Clin Invest,2001,108(3):407-414.
- [34]He JQ,Ma Y,Lee Y,et al.Human embryonic stem cells develop into multiple types of cardiac myocytes:action potential characterization.Circ Res,2003,93(1):32-39.
- [35]Barbuti A,Crespi A,Capilupo D,et al.Molecular composition and functional properties of f-channels in murine embryonic stem cell-derived pacemaker cells.J Mol Cell Cardiol,2009,46(3):343-351.
- [36]刘鸿.生物起搏治疗病态窦房结综合征.山西医科大学硕士学位论文,2010:1-36.
- [37]Potapova I,Plotnikov A,Lu Z,et al.Human mesenchymal stem cells as a gene delivery system to create cardiac pacemakers.Circ Res,2004,94(7):952-959.
- [38]Rosen MR,Robinson RB,Brink P,et al.Recreating the biological pacemaker.Anat Rec A Discov Mol Cell Evol Biol,2004,280(2):1046-1052.2018-11-13