Nat Genet：加拿大研究者发现罕见病心脏-肠道综合征

2014-10-14 伊文国际循环

近日，加拿大Montreal大学研究者发现了一种名为“慢性心房肠道节律障碍综合征”（CAID）的罕见遗传性疾病，研究结果证实心脏和肠道的节律性收缩都与人体一个单基因密切相关。研究10月5日在线发表于Nature Genetics。研究者还为CAID制订了诊断性检查方法。Gregor Andelfinger博士表示“该检查能确诊此综合征，其特点为同时存在多种心脏和肠道症状。”Philip

近日，加拿大Montreal大学研究者发现了一种名为“慢性心房肠道节律障碍综合征”（CAID）的罕见遗传性疾病，研究结果证实心脏和肠道的节律性收缩都与人体一个单基因密切相关。研究10月5日在线发表于Nature Genetics。

研究者还为CAID制订了诊断性检查方法。Gregor Andelfinger博士表示“该检查能确诊此综合征，其特点为同时存在多种心脏和肠道症状。”Philippe Chetaille博士补充，“症状非常严重，治疗也非常强化且为有创性。心脏方面，患者主要表现为低心率，多于幼年起病，约半数需植入起搏器。消化系统方面，慢性假性肠梗阻常使患者不得不完全依赖肠外营养。此外，许多患者需接受肠道手术。”

研究者通过分析8例法裔加拿大患者和1例北欧裔患者的DNA，显示合并心脏和肠道症状的患者多携带SGOL1基因变异。动物试验进一步证实了SGOL1和症状的因果联系。使用历史数据库，研究者发现8例法裔加拿大患者的家系追溯到17世纪均在法国有共同祖先。分子遗传学检查进一步证实了法裔加拿大患者和北欧裔患者具有共同祖先。该基因源于12世纪，维京人从斯堪的纳维亚移居至诺曼底，17世纪又移民至北美洲的新法兰西殖民地。

研究者认为SGOL1变异降低了肠道和心脏特异神经和肌肉细胞的保护，导致复制周期加快而早衰。SGOL1基因的具体作用有待进一步研究。

原始出处：

Chetaille P1, Preuss C2, Burkhard S3, Côté JM1, Houde C1, Castilloux J1, Piché J2, Gosset N2, Leclerc S2, Wünnemann F2, Thibeault M2, Gagnon C2, Galli A4, Tuck E4, Hickson GR5, Amine NE5, Boufaied I5, Lemyre E5, de Santa Barbara P6, Faure S6, Jonzon A7, Cameron M2, Dietz HC8, Gallo-McFarlane E8, Benson DW9, Moreau C5, Labuda D5; FORGE Canada Consortium, Zhan SH10, Shen Y10, Jomphe M11, Jones SJ10, Bakkers J3, Andelfinger G12.Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.Nat Genet. 2014 Oct 5. doi: 10.1038/ng.3113. [Epub ahead of print]

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2014-10-28 爆笑小医

#Gene#

67 0
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2015-04-25 liye789132251

#Nat#

54 0
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2015-08-18 江川靖瑶

#Genet#

63 0
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2015-01-01 canlab

#NET#

71 0
[GetPortalCommentsPageByObjectIdResponse(id=2048622, encodeId=1ceb2048622dc, content=<a href='/topic/show?id=4363e929ad' target=_blank style='color:#2F92EE;'>#Gene#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=67, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=7929, encryptionId=4363e929ad, topicName=Gene)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=395f25, createdName=爆笑小医, createdTime=Tue Oct 28 13:25:00 CST 2014, time=2014-10-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1880311, encodeId=af2818803112d, content=<a href='/topic/show?id=3b2112532d8' target=_blank style='color:#2F92EE;'>#Nat#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=54, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12532, encryptionId=3b2112532d8, topicName=Nat)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=2e6f107, createdName=liye789132251, createdTime=Sat Apr 25 08:25:00 CST 2015, time=2015-04-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1685970, encodeId=717f16859e0fc, content=<a href='/topic/show?id=66f3e93862' target=_blank style='color:#2F92EE;'>#Genet#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=7938, encryptionId=66f3e93862, topicName=Genet)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=d3e128296421, createdName=江川靖瑶, createdTime=Tue Aug 18 09:25:00 CST 2015, time=2015-08-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1733716, encodeId=c03a1e33716fa, content=<a href='/topic/show?id=d4f412668a4' target=_blank style='color:#2F92EE;'>#NET#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=71, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12668, encryptionId=d4f412668a4, topicName=NET)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=7ea033781210, createdName=canlab, createdTime=Thu Jan 01 04:25:00 CST 2015, time=2015-01-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=12664, encodeId=caf112664c1, content=涨姿势了！, beContent=null, objectType=article, channel=null, level=null, likeNumber=157, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=822991857, createdName=tangsongqi, createdTime=Mon Nov 24 16:38:00 CST 2014, time=2014-11-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2032726, encodeId=76b02032e265f, content=<a href='/topic/show?id=ff85e343730' target=_blank style='color:#2F92EE;'>#研究者#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=73437, encryptionId=ff85e343730, topicName=研究者)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=1a19115, createdName=stfoxst, createdTime=Mon Jan 26 01:25:00 CST 2015, time=2015-01-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1312522, encodeId=32321312522f1, content=<a href='/topic/show?id=1aa333006b4' target=_blank style='color:#2F92EE;'>#加拿大#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=56, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=33006, encryptionId=1aa333006b4, topicName=加拿大)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=279b407, createdName=shanyongle, createdTime=Thu Oct 16 00:25:00 CST 2014, time=2014-10-16, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1430480, encodeId=6e941430480d8, content=<a href='/topic/show?id=f9b9e9124a8' target=_blank style='color:#2F92EE;'>#综合征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=46, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79124, encryptionId=f9b9e9124a8, topicName=综合征)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Thu Oct 16 00:25:00 CST 2014, time=2014-10-16, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1467065, encodeId=86e5146e06561, content=<a href='/topic/show?id=ef32e9539e8' target=_blank style='color:#2F92EE;'>#罕见#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=56, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79539, encryptionId=ef32e9539e8, topicName=罕见)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=29f36868190, createdName=syscxl, createdTime=Thu Oct 16 00:25:00 CST 2014, time=2014-10-16, status=1, ipAttribution=)]
2014-11-24 tangsongqi

涨姿势了！

157 0
[GetPortalCommentsPageByObjectIdResponse(id=2048622, encodeId=1ceb2048622dc, content=<a href='/topic/show?id=4363e929ad' target=_blank style='color:#2F92EE;'>#Gene#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=67, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=7929, encryptionId=4363e929ad, topicName=Gene)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=395f25, createdName=爆笑小医, createdTime=Tue Oct 28 13:25:00 CST 2014, time=2014-10-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1880311, encodeId=af2818803112d, content=<a href='/topic/show?id=3b2112532d8' target=_blank style='color:#2F92EE;'>#Nat#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=54, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12532, encryptionId=3b2112532d8, topicName=Nat)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=2e6f107, createdName=liye789132251, createdTime=Sat Apr 25 08:25:00 CST 2015, time=2015-04-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1685970, encodeId=717f16859e0fc, content=<a href='/topic/show?id=66f3e93862' target=_blank style='color:#2F92EE;'>#Genet#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=7938, encryptionId=66f3e93862, topicName=Genet)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=d3e128296421, createdName=江川靖瑶, createdTime=Tue Aug 18 09:25:00 CST 2015, time=2015-08-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1733716, encodeId=c03a1e33716fa, content=<a href='/topic/show?id=d4f412668a4' target=_blank style='color:#2F92EE;'>#NET#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=71, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12668, encryptionId=d4f412668a4, topicName=NET)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=7ea033781210, createdName=canlab, createdTime=Thu Jan 01 04:25:00 CST 2015, time=2015-01-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=12664, encodeId=caf112664c1, content=涨姿势了！, beContent=null, objectType=article, channel=null, level=null, likeNumber=157, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=822991857, createdName=tangsongqi, createdTime=Mon Nov 24 16:38:00 CST 2014, time=2014-11-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2032726, encodeId=76b02032e265f, content=<a href='/topic/show?id=ff85e343730' target=_blank style='color:#2F92EE;'>#研究者#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=73437, encryptionId=ff85e343730, topicName=研究者)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=1a19115, createdName=stfoxst, createdTime=Mon Jan 26 01:25:00 CST 2015, time=2015-01-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1312522, encodeId=32321312522f1, content=<a href='/topic/show?id=1aa333006b4' target=_blank style='color:#2F92EE;'>#加拿大#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=56, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=33006, encryptionId=1aa333006b4, topicName=加拿大)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=279b407, createdName=shanyongle, createdTime=Thu Oct 16 00:25:00 CST 2014, time=2014-10-16, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1430480, encodeId=6e941430480d8, content=<a href='/topic/show?id=f9b9e9124a8' target=_blank style='color:#2F92EE;'>#综合征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=46, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79124, encryptionId=f9b9e9124a8, topicName=综合征)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Thu Oct 16 00:25:00 CST 2014, time=2014-10-16, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1467065, encodeId=86e5146e06561, content=<a href='/topic/show?id=ef32e9539e8' target=_blank style='color:#2F92EE;'>#罕见#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=56, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79539, encryptionId=ef32e9539e8, topicName=罕见)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=29f36868190, createdName=syscxl, createdTime=Thu Oct 16 00:25:00 CST 2014, time=2014-10-16, status=1, ipAttribution=)]
2015-01-26 stfoxst

#研究者#

57 0
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2014-10-16 shanyongle

#加拿大#

56 0
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2014-10-16 zhouqu_8

#综合征#

46 0
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2014-10-16 syscxl

#罕见#

56 0

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