心房颤动机制研究进身展--细胞核孔复合物与跨核运输障碍.pptVIP

是什么导致了此家系中早发、恶性房颤？ 致 谢 华中科技大学生命科学与技术学院人类基因研究中心CARDIO-X团队 教师：凃欣、石立松、任翔、柯铁、李辉、李先涛 博士生：李聪、王鹏云、汪樊、徐承启、王楚楚 李修春、王丹、熊欣 CARDIO-X团队其他同学 致 谢 杨延宗，夏云龙，刘颖，刘金秋（大连医科大学） 廖玉华 ，程翔（华中科技大学同济医学院附属协和医院心内科） 杨宝峰（哈尔滨医科大学） 杨波，吴钢，黄从新（湖北省人民医院） 吴艳霞，柯于鹤（武汉市第一医院） Thank you！ (A) NE and ER membrane continuities. Nuclear pore complexes (NPC) are depicted in blue, and a protein targeted to the inner nuclear membrane (INM) in green. Note its equal and random distribution in ER and outer nuclear membrane (ONM) and its concentration in the INM. Possible diffusion through the pore membrane is shown in one case. (B) Detail of A showing predicted topology of full-length LBR (endogenous) and LBR-GFP. LBR-GFP contains the NH2-terminal nucleoplasmic tail as well as the first transmembrane span of full-length LBR (amino acids 1-238), resulting in a lumenal GFP localization. * * 心房颤动机制研究进展--细胞核孔复合物与跨核运输障碍 华中科技大学生命科学与技术学院 华中科技大学人类基因组研究中心 分子生物物理教育部重点实验室 王擎 故事的开始：常染色体隐性遗传房颤家系 * 1 -57 family members -32 males -25 females -5 living generations -Age: 3 m-93 y -Autosomal recessive inheritance pattern -7 consanguineous marriages An Interesting Family Circulation, 2004 Oberti et al. Circulation, 2004;110:3753-3759 Proband V:11 -Chronic AF -QTc=0.42 s -Delivered by caesarean section due to fetal tachycardia, HR of 250 bpm, atrial fibrillation and atrial flutter -Echo at day 2: marked dilatation of both atria, EF 52% -EP at 1 m detected AF, ablation of AV node -Pacemaker Echo at 2 m: mild atrial dilatation, normal EF 52% -Died suddenly at 15 m Oberti et al. Circulation, 2004;110:3753-3759 Patient VI:2 -Chronic AF -QTc=0.40 s -HR=125 bpm with digoxin and propafenone Echo at 15 m: normal -Died suddenly at 19 m Oberti et al. Circulation, 2004;110:3753-3759 Patient V:9 -Atrial flutter - Delivered by C section due to fetal tachycardia -Born with supraventricular tachycardia -ECG at 24 d: atrial flutter, HR=200 bpm -Echo at 24 d: normal -Later Echo: mild dilatation of left ventricle and left atr