科学家找到严重低血糖的原因
文章来源:未知 文章作者:enread 发布时间:2011-10-09 05:19 字体: [ ]  进入论坛
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Cambridge scientists have identified the cause of a rare, life-threatening form of hypoglycaemia(低血糖) . Their findings, which have the potential to lead to pharmaceutical1 treatments for the disorder2, were published October 7, in the journal Science. Hypoglycaemia, usually characterised by too much insulin which results in too little sugar in the bloodstream, is fairly common, often affecting diabetic patients or individuals with disorders3 that cause insulin overproduction. Symptoms can include seizures4 and unconsciousness.

However, in an estimated 1 in 100,000 births a genetic6 defect causes a severe, life-threatening form of hypoglycaemia without detectable7 insulin in the bloodstream. For this rare condition, the mainstay of treatment has been implantation of a surgical8 feeding tube through the front of the stomach to allow feeding during sleep. This prevents patients' blood glucose9(葡萄糖) from dropping dangerously low overnight when monitoring is difficult and when symptoms often pass unnoticed.

Dr Robert Semple, Wellcome Trust Clinician Scientist at the Institute of Metabolic10 Science at the University of Cambridge, said: "Fear of low blood sugar has dominated the lives of these patients and their families, and for many years the lack of an obvious cause has added to their anxiety. Offering families an explanation for a rare disease is usually of great value to them in its own right, but in this case it is particularly exciting that our findings open the door for a new and specific treatment in the future."

For the research, scientists at the Institute of Metabolic Science and the Wellcome Trust Sanger Institute, working with clinical specialists in Cambridge, London and Paris, studied three children who suffered from this unusual form of hypoglycaemia. By examining the children's genetic code, they were able to identify the rare genetic alteration11 responsible for the disorder. In all three children, but none of their parents, a single change in the AKT2 gene5 was identified.

AKT2 plays a critical role in transmitting insulin's signal to the body's tissues. The change identified in AKT2 left this signal constantly turned partly on, even during fasting when its absence is essential for liver glucose production. The study's results not only offer an explanation to families for this severe metabolic disease, but also suggest an immediate12 target for new drugs.

The prospect13 of a new pharmaceutical treatment for this rare disorder is dramatically increased due to the fact that the AKT2 molecule14 is closely related to a molecule that is commonly activated15 in cancers (AKT1). As a result, the scientists speculate that drugs currently in development (some at the advanced clinical trial stage) that directly block activation16 of the cancer molecule AKT1 but also happen to block AKT2 could possibly be used to treat this rare form of hypoglycaemia.

Prof Stephen O'Rahilly, co-author of the paper and Co-Director of the Institute of Metabolic Science, said: "I went down to Great Ormond Street to see one of these patients, then a young child, about 10 years ago. It is enormously satisfying that we have finally understood the cause of his problem and very exciting that a potential therapy immediately suggests itself for this young man and others with this, probably under-recognised, condition."

Dr Inês Barroso, Joint17 Head of Human Genetics at the Wellcome Trust Sanger Institute, said: "Beyond the exciting prospect of offering hope for treating diseases such as these, this study is an excellent example of how recent advances in genetic approaches will transform medical diagnostics and treatments."



点击收听单词发音收听单词发音  

1 pharmaceutical f30zR     
adj.药学的,药物的;药用的,药剂师的
参考例句:
  • She has donated money to establish a pharmaceutical laboratory.她捐款成立了一个药剂实验室。
  • We are engaged in a legal tussle with a large pharmaceutical company.我们正同一家大制药公司闹法律纠纷。
2 disorder Et1x4     
n.紊乱,混乱;骚动,骚乱;疾病,失调
参考例句:
  • When returning back,he discovered the room to be in disorder.回家后,他发现屋子里乱七八糟。
  • It contained a vast number of letters in great disorder.里面七零八落地装着许多信件。
3 disorders 6e49dcafe3638183c823d3aa5b12b010     
n.混乱( disorder的名词复数 );凌乱;骚乱;(身心、机能)失调
参考例句:
  • Reports of anorexia and other eating disorders are on the increase. 据报告,厌食症和其他饮食方面的功能紊乱发生率正在不断增长。 来自《简明英汉词典》
  • The announcement led to violent civil disorders. 这项宣布引起剧烈的骚乱。 来自《简明英汉词典》
4 seizures d68658a6ccfd246a0e750fdc12689d94     
n.起获( seizure的名词复数 );没收;充公;起获的赃物
参考例句:
  • Seizures of illicit drugs have increased by 30% this year. 今年违禁药品的扣押增长了30%。 来自《简明英汉词典》
  • Other causes of unconsciousness predisposing to aspiration lung abscess are convulsive seizures. 造成吸入性肺脓肿昏迷的其他原因,有惊厥发作。 来自辞典例句
5 gene WgKxx     
n.遗传因子,基因
参考例句:
  • A single gene may have many effects.单一基因可能具有很多种效应。
  • The targeting of gene therapy has been paid close attention.其中基因治疗的靶向性是值得密切关注的问题之一。
6 genetic PgIxp     
adj.遗传的,遗传学的
参考例句:
  • It's very difficult to treat genetic diseases.遗传性疾病治疗起来很困难。
  • Each daughter cell can receive a full complement of the genetic information.每个子细胞可以收到遗传信息的一个完全补偿物。
7 detectable tuXzmd     
adj.可发觉的;可查明的
参考例句:
  • The noise is barely detectable by the human ear.人的耳朵几乎是察觉不到这种噪音的。
  • The inflection point at this PH is barely detectable.在此PH值下,拐点不易发现。
8 surgical 0hXzV3     
adj.外科的,外科医生的,手术上的
参考例句:
  • He performs the surgical operations at the Red Cross Hospital.他在红十字会医院做外科手术。
  • All surgical instruments must be sterilised before use.所有的外科手术器械在使用之前,必须消毒。
9 glucose Fyiyz     
n.葡萄糖
参考例句:
  • I gave him an extra dose of glucose to pep him up.我给他多注射了一剂葡萄糖以增强他的活力。
  • The doctor injected glucose into his patient's veins.医生将葡萄糖注入病人的静脉。
10 metabolic 2R4z1     
adj.新陈代谢的
参考例句:
  • Impressive metabolic alternations have been undergone during embryogenesis.在胚胎发生期间经历了深刻的代谢变化。
  • A number of intoxicants are associated with metabolic acidosis.许多毒性物质可引起代谢性酸中毒。
11 alteration rxPzO     
n.变更,改变;蚀变
参考例句:
  • The shirt needs alteration.这件衬衣需要改一改。
  • He easily perceived there was an alteration in my countenance.他立刻看出我的脸色和往常有些不同。
12 immediate aapxh     
adj.立即的;直接的,最接近的;紧靠的
参考例句:
  • His immediate neighbours felt it their duty to call.他的近邻认为他们有责任去拜访。
  • We declared ourselves for the immediate convocation of the meeting.我们主张立即召开这个会议。
13 prospect P01zn     
n.前景,前途;景色,视野
参考例句:
  • This state of things holds out a cheerful prospect.事态呈现出可喜的前景。
  • The prospect became more evident.前景变得更加明朗了。
14 molecule Y6Tzn     
n.分子,克分子
参考例句:
  • A molecule of water is made up of two atoms of hygrogen and one atom of oxygen.一个水分子是由P妈?f婘??妈?成的。
  • This gives us the structural formula of the molecule.这种方式给出了分子的结构式。
15 activated c3905c37f4127686d512a7665206852e     
adj. 激活的 动词activate的过去式和过去分词
参考例句:
  • The canister is filled with activated charcoal.蒸气回收罐中充满了活性炭。
16 activation 24eed33ee38027d124839f0fcdf6adcb     
n. 激活,催化作用
参考例句:
  • A computer controls the activation of an air bag.电脑控制着气囊的启动。
17 joint m3lx4     
adj.联合的,共同的;n.关节,接合处;v.连接,贴合
参考例句:
  • I had a bad fall,which put my shoulder out of joint.我重重地摔了一跤,肩膀脫臼了。
  • We wrote a letter in joint names.我们联名写了封信。
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