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J Neurosci Res: Sorsby眼底营养不良研究综述

2018-08-30 MedSci MedSci原创

Sorsby眼底营养不良研究综述TIMP3
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美国克利夫兰诊所基金会眼科研究所眼科研究部的Anand-Apte B等人，近日在J Neurosci Res上发表了一篇综述，系统的总结了Sorsby眼底营养不良（SFD）的突变基因-金属蛋白酶组织抑制因子-3（TIMP3）基因的相关研究进展。

美国克利夫兰诊所基金会眼科研究所眼科研究部的Anand-Apte B等人，近日在J Neurosci Res上发表了一篇综述，系统的总结了Sorsby眼底营养不良（SFD）的突变基因-金属蛋白酶组织抑制因子-3（TIMP3）基因的相关研究进展。

Sorsby眼底营养不良（SFD）是一种常染色体显性遗传疾病，也是一种黄斑退行性疾病，表现为夜盲症或视力突然丧失，通常是由于脉络膜新生血管（CNV）导致的。 SFD由金属蛋白酶组织抑制因子-3（TIMP3）基因的特异性突变引起。 SFD患者眼中的主要组织病理特征是在视网膜色素上皮（RPE）基底膜和Bruch膜的内胶原层之间发现无定形沉积物，大约有20-30μm厚。

SFD是一种罕见的疾病，但它引起了诸多眼科工作者的极大兴趣，因为它非常类似于更常见的年龄相关性黄斑变性（AMD）的渗出性或"湿性"形式。此外，在SFD和AMD眼中，视网膜下沉积物明显积累了TIMP3蛋白。了解野生型和突变型TIMP3的分子功能将为SFD和AMD的病理生理学提供重要的见解。

本综述总结了目前关于TIMP3的知识，以及TIMP3突变如何导致SFD。同时，作者讨论了人们如何研究这种疾病。这些研究结果可能对SFD和AM具有潜在的治疗意义。

原文出处：

Anand-Apte， B.， et al.， Sorsby fundus dystrophy： Insights from the past and looking to the future. J Neurosci Res， 2018.

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    2018-09-20 Jackie Li

    学习

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=345806, encodeId=b86e345806e2, content=学习, beContent=null, objectType=article, channel=null, level=null, likeNumber=48, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfBfgWn9nXBgH1sNSiaOAKhsKpN40jDHQKqcRzovau5VibLvREN8uxnu9sKoScBicHSiaDMmbveibFdrBiaD4k4IOPwlG/0, createdBy=b5d11730951, createdName=Jackie Li, createdTime=Thu Sep 20 10:27:56 CST 2018, time=2018-09-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1364377, encodeId=fa8f13643e7bb, content=<a href='/topic/show?id=7c5615628ad' target=_blank style='color:#2F92EE;'>#ROS#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=15628, encryptionId=7c5615628ad, topicName=ROS)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=acc3210, createdName=lsndxfj, createdTime=Sat Sep 01 13:17:00 CST 2018, time=2018-09-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=341863, encodeId=487b3418630d, content=学习了，谢谢作者分享!, beContent=null, objectType=article, channel=null, level=null, likeNumber=46, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3xJXLtMtt5B40XXuPjn9xn1rBhrM6fHLkX1hI86ZoWoPJkgDkZuJNKkBfBHOcRd1fAdezg7JlHNOokohdAp3WkI/0, createdBy=32c81964262, createdName=1e145228m78(暂无匿称), createdTime=Fri Aug 31 05:30:53 CST 2018, time=2018-08-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=341846, encodeId=dcdf341846fe, content=学习了，谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7c592194322, createdName=1209e435m98(暂无昵称), createdTime=Fri Aug 31 00:03:53 CST 2018, time=2018-08-31, status=1, ipAttribution=)]
    2018-09-01 lsndxfj

    #ROS#

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=345806, encodeId=b86e345806e2, content=学习, beContent=null, objectType=article, channel=null, level=null, likeNumber=48, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfBfgWn9nXBgH1sNSiaOAKhsKpN40jDHQKqcRzovau5VibLvREN8uxnu9sKoScBicHSiaDMmbveibFdrBiaD4k4IOPwlG/0, createdBy=b5d11730951, createdName=Jackie Li, createdTime=Thu Sep 20 10:27:56 CST 2018, time=2018-09-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1364377, encodeId=fa8f13643e7bb, content=<a href='/topic/show?id=7c5615628ad' target=_blank style='color:#2F92EE;'>#ROS#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=15628, encryptionId=7c5615628ad, topicName=ROS)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=acc3210, createdName=lsndxfj, createdTime=Sat Sep 01 13:17:00 CST 2018, time=2018-09-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=341863, encodeId=487b3418630d, content=学习了，谢谢作者分享!, beContent=null, objectType=article, channel=null, level=null, likeNumber=46, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3xJXLtMtt5B40XXuPjn9xn1rBhrM6fHLkX1hI86ZoWoPJkgDkZuJNKkBfBHOcRd1fAdezg7JlHNOokohdAp3WkI/0, createdBy=32c81964262, createdName=1e145228m78(暂无匿称), createdTime=Fri Aug 31 05:30:53 CST 2018, time=2018-08-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=341846, encodeId=dcdf341846fe, content=学习了，谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7c592194322, createdName=1209e435m98(暂无昵称), createdTime=Fri Aug 31 00:03:53 CST 2018, time=2018-08-31, status=1, ipAttribution=)]
    2018-08-31 1e145228m78(暂无匿称)

    学习了，谢谢作者分享!

    0

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    2018-08-31 1209e435m98(暂无昵称)

    学习了，谢谢分享

    0