医学知识

订阅

MedSci主页 / 所有栏目 / 医学知识

JCEM：Akt2突变可导致血脂代谢异常者出现低血糖

2018-03-02 MedSci MedSci原创

关注

Akt(v-akt murine thymoma viral oncogene)也被称为蛋白激酶B(protein kinase B,PKB),是一种分子量约为60 kDa的丝氨酸/苏氨酸蛋白激酶。它处于多条信号通路的重要交叉点。可调节细胞因子、生长因子和癌基因Ras激活的细胞生存信号,在真核生物的调控网络中普遍存在。其中，Akt2调节胰岛素的代谢。既往的研究发现激活的Akt2 (p.Glu17L

Akt(v-akt murine thymoma viral oncogene)也被称为蛋白激酶B(protein kinase B,PKB),是一种分子量约为60 kDa的丝氨酸/苏氨酸蛋白激酶。它处于多条信号通路的重要交叉点。可调节细胞因子、生长因子和癌基因Ras激活的细胞生存信号,在真核生物的调控网络中普遍存在。其中，Akt2调节胰岛素的代谢。

既往的研究发现激活的Akt2 (p.Glu17Lys)突变导致低血糖低胰岛素血症和左侧半身肥大症。但没有报告更广泛的代谢影响和长期的自然病史。因此，研究人员对先前报道的两例Akt2 (p.Glu17Lys)突变的17岁男性患者的代谢和细胞结果进行了研究。

使用双能x线吸收仪、隔夜空腹血糖、胰岛素和脂肪酸、口服葡萄糖耐量试验、磁共振波谱分析对身体组分分析，以确定肝脏甘油三酯含量。肝脏脂肪酸从头合成通过将氘加入棕榈酸酯进行量化。使用间接体内法研究成纤维细胞信号转导。

研究人员发现两个病人均胖了37%。一例患者在夜间禁食2小时（血浆脂肪酸和酮体联合抑制）后发生低血糖，而另一例患者因游离脂肪酸水平升高而保持正常。两例患者口服葡萄糖后血糖波动正常，但血浆胰岛素浓度低。在两位患者的血浆甘油三酯浓度方面，肝脏甘油三酯含量与空腹肝脏脂肪酸从头合成是正常的。一个先证者的皮肤成纤维细胞的Akt2上本构的磷酸化是低水平的且存在一些下游底物，但细胞增殖率没有增加。


研究人员认为Akt2的p.glu17lys突变在激酶上的本构活动是低水平的，并抑制脂肪酸从脂肪组织释放进而导致低血糖，但这种变化不在脂肪肝、高甘油三酯血症和肝脏脂肪酸从头合成患者中出现。低血糖可自行缓解。

原始出处：

Minic M, Rocha N,et al.Constitutive activation of AKT2 in humans leads to hypoglycemia without fatty liver or metabolic dyslipidemia.J Clin Endocrinol Metab. 2017 May 23. doi: 10.1210/jc.2017-00768. [Epub ahead of print]

https://www.ncbi.nlm.nih.gov/pubmed/28541532

版权声明：
本网站所有内容来源注明为“梅斯医学”或“MedSci原创”的文字、图片和音视频资料，版权均属于梅斯医学所有。非经授权，任何媒体、网站或个人不得转载，授权转载时须注明来源为“梅斯医学”。其它来源的文章系转载文章，或“梅斯号”自媒体发布的文章，仅系出于传递更多信息之目的，本站仅负责审核内容合规，其内容不代表本站立场，本站不负责内容的准确性和版权。如果存在侵权、或不希望被转载的媒体或个人可与我们联系，我们将立即进行删除处理。
在此留言
评论区 (5)
#插入话题
  1. [GetPortalCommentsPageByObjectIdResponse(id=2063160, encodeId=446c2063160da, content=<a href='/topic/show?id=14fb10264d7' target=_blank style='color:#2F92EE;'>#JCE#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=46, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=10264, encryptionId=14fb10264d7, topicName=JCE)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=e656479, createdName=achengzhao, createdTime=Sat Jan 05 15:21:00 CST 2019, time=2019-01-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1777778, encodeId=832b1e7777884, content=<a href='/topic/show?id=eb9610265ed' target=_blank style='color:#2F92EE;'>#JCEM#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=10265, encryptionId=eb9610265ed, topicName=JCEM)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=2a4439169927, createdName=smallant2015, createdTime=Fri Sep 28 13:21:00 CST 2018, time=2018-09-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1656164, encodeId=8270165616469, content=<a href='/topic/show?id=f4782246ec' target=_blank style='color:#2F92EE;'>#Akt#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=2246, encryptionId=f4782246ec, topicName=Akt)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=b8c724776724, createdName=xfpan20, createdTime=Mon May 14 00:21:00 CST 2018, time=2018-05-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1597072, encodeId=1cb0159e072c2, content=<a href='/topic/show?id=e7f6842982d' target=_blank style='color:#2F92EE;'>#脂代谢#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=84298, encryptionId=e7f6842982d, topicName=脂代谢)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=ce3218475330, createdName=huangdf, createdTime=Sun Mar 04 14:21:00 CST 2018, time=2018-03-04, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1631792, encodeId=68211631e9219, content=<a href='/topic/show?id=875e2542699' target=_blank style='color:#2F92EE;'>#代谢异常#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=25426, encryptionId=875e2542699, topicName=代谢异常)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=c06e21824720, createdName=bettycmoon, createdTime=Sun Mar 04 14:21:00 CST 2018, time=2018-03-04, status=1, ipAttribution=)]
    2019-01-05 achengzhao

    #JCE#

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=2063160, encodeId=446c2063160da, content=<a href='/topic/show?id=14fb10264d7' target=_blank style='color:#2F92EE;'>#JCE#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=46, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=10264, encryptionId=14fb10264d7, topicName=JCE)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=e656479, createdName=achengzhao, createdTime=Sat Jan 05 15:21:00 CST 2019, time=2019-01-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1777778, encodeId=832b1e7777884, content=<a href='/topic/show?id=eb9610265ed' target=_blank style='color:#2F92EE;'>#JCEM#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=10265, encryptionId=eb9610265ed, topicName=JCEM)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=2a4439169927, createdName=smallant2015, createdTime=Fri Sep 28 13:21:00 CST 2018, time=2018-09-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1656164, encodeId=8270165616469, content=<a href='/topic/show?id=f4782246ec' target=_blank style='color:#2F92EE;'>#Akt#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=2246, encryptionId=f4782246ec, topicName=Akt)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=b8c724776724, createdName=xfpan20, createdTime=Mon May 14 00:21:00 CST 2018, time=2018-05-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1597072, encodeId=1cb0159e072c2, content=<a href='/topic/show?id=e7f6842982d' target=_blank style='color:#2F92EE;'>#脂代谢#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=84298, encryptionId=e7f6842982d, topicName=脂代谢)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=ce3218475330, createdName=huangdf, createdTime=Sun Mar 04 14:21:00 CST 2018, time=2018-03-04, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1631792, encodeId=68211631e9219, content=<a href='/topic/show?id=875e2542699' target=_blank style='color:#2F92EE;'>#代谢异常#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=25426, encryptionId=875e2542699, topicName=代谢异常)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=c06e21824720, createdName=bettycmoon, createdTime=Sun Mar 04 14:21:00 CST 2018, time=2018-03-04, status=1, ipAttribution=)]
    2018-09-28 smallant2015

    #JCEM#

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=2063160, encodeId=446c2063160da, content=<a href='/topic/show?id=14fb10264d7' target=_blank style='color:#2F92EE;'>#JCE#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=46, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=10264, encryptionId=14fb10264d7, topicName=JCE)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=e656479, createdName=achengzhao, createdTime=Sat Jan 05 15:21:00 CST 2019, time=2019-01-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1777778, encodeId=832b1e7777884, content=<a href='/topic/show?id=eb9610265ed' target=_blank style='color:#2F92EE;'>#JCEM#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=10265, encryptionId=eb9610265ed, topicName=JCEM)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=2a4439169927, createdName=smallant2015, createdTime=Fri Sep 28 13:21:00 CST 2018, time=2018-09-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1656164, encodeId=8270165616469, content=<a href='/topic/show?id=f4782246ec' target=_blank style='color:#2F92EE;'>#Akt#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=2246, encryptionId=f4782246ec, topicName=Akt)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=b8c724776724, createdName=xfpan20, createdTime=Mon May 14 00:21:00 CST 2018, time=2018-05-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1597072, encodeId=1cb0159e072c2, content=<a href='/topic/show?id=e7f6842982d' target=_blank style='color:#2F92EE;'>#脂代谢#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=84298, encryptionId=e7f6842982d, topicName=脂代谢)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=ce3218475330, createdName=huangdf, createdTime=Sun Mar 04 14:21:00 CST 2018, time=2018-03-04, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1631792, encodeId=68211631e9219, content=<a href='/topic/show?id=875e2542699' target=_blank style='color:#2F92EE;'>#代谢异常#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=25426, encryptionId=875e2542699, topicName=代谢异常)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=c06e21824720, createdName=bettycmoon, createdTime=Sun Mar 04 14:21:00 CST 2018, time=2018-03-04, status=1, ipAttribution=)]
    2018-05-14 xfpan20

    #Akt#

    0

  4. [GetPortalCommentsPageByObjectIdResponse(id=2063160, encodeId=446c2063160da, content=<a href='/topic/show?id=14fb10264d7' target=_blank style='color:#2F92EE;'>#JCE#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=46, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=10264, encryptionId=14fb10264d7, topicName=JCE)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=e656479, createdName=achengzhao, createdTime=Sat Jan 05 15:21:00 CST 2019, time=2019-01-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1777778, encodeId=832b1e7777884, content=<a href='/topic/show?id=eb9610265ed' target=_blank style='color:#2F92EE;'>#JCEM#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=10265, encryptionId=eb9610265ed, topicName=JCEM)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=2a4439169927, createdName=smallant2015, createdTime=Fri Sep 28 13:21:00 CST 2018, time=2018-09-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1656164, encodeId=8270165616469, content=<a href='/topic/show?id=f4782246ec' target=_blank style='color:#2F92EE;'>#Akt#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=2246, encryptionId=f4782246ec, topicName=Akt)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=b8c724776724, createdName=xfpan20, createdTime=Mon May 14 00:21:00 CST 2018, time=2018-05-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1597072, encodeId=1cb0159e072c2, content=<a href='/topic/show?id=e7f6842982d' target=_blank style='color:#2F92EE;'>#脂代谢#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=84298, encryptionId=e7f6842982d, topicName=脂代谢)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=ce3218475330, createdName=huangdf, createdTime=Sun Mar 04 14:21:00 CST 2018, time=2018-03-04, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1631792, encodeId=68211631e9219, content=<a href='/topic/show?id=875e2542699' target=_blank style='color:#2F92EE;'>#代谢异常#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=25426, encryptionId=875e2542699, topicName=代谢异常)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=c06e21824720, createdName=bettycmoon, createdTime=Sun Mar 04 14:21:00 CST 2018, time=2018-03-04, status=1, ipAttribution=)]
    2018-03-04 huangdf

    #脂代谢#

    0

  5. [GetPortalCommentsPageByObjectIdResponse(id=2063160, encodeId=446c2063160da, content=<a href='/topic/show?id=14fb10264d7' target=_blank style='color:#2F92EE;'>#JCE#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=46, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=10264, encryptionId=14fb10264d7, topicName=JCE)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=e656479, createdName=achengzhao, createdTime=Sat Jan 05 15:21:00 CST 2019, time=2019-01-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1777778, encodeId=832b1e7777884, content=<a href='/topic/show?id=eb9610265ed' target=_blank style='color:#2F92EE;'>#JCEM#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=10265, encryptionId=eb9610265ed, topicName=JCEM)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=2a4439169927, createdName=smallant2015, createdTime=Fri Sep 28 13:21:00 CST 2018, time=2018-09-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1656164, encodeId=8270165616469, content=<a href='/topic/show?id=f4782246ec' target=_blank style='color:#2F92EE;'>#Akt#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=2246, encryptionId=f4782246ec, topicName=Akt)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=b8c724776724, createdName=xfpan20, createdTime=Mon May 14 00:21:00 CST 2018, time=2018-05-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1597072, encodeId=1cb0159e072c2, content=<a href='/topic/show?id=e7f6842982d' target=_blank style='color:#2F92EE;'>#脂代谢#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=84298, encryptionId=e7f6842982d, topicName=脂代谢)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=ce3218475330, createdName=huangdf, createdTime=Sun Mar 04 14:21:00 CST 2018, time=2018-03-04, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1631792, encodeId=68211631e9219, content=<a href='/topic/show?id=875e2542699' target=_blank style='color:#2F92EE;'>#代谢异常#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=25426, encryptionId=875e2542699, topicName=代谢异常)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=c06e21824720, createdName=bettycmoon, createdTime=Sun Mar 04 14:21:00 CST 2018, time=2018-03-04, status=1, ipAttribution=)]
    2018-03-04 bettycmoon

    #代谢异常#

    0