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【资讯翻译】Liver alcoholic cirrhosis: a major genetic advance

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发表于 2015-10-22 08:29:58 | 显示全部楼层 |阅读模式
Liver alcoholic cirrhosis: a major genetic advance

Up to 4% of all deaths worldwide are attributable to excessive alcohol consumption. The liver is the most common affected organ by chronic alcohol consumption. Alcohol misuse is the leading cause of liver cirrhosis and the first cause of cirrhosis mortality in Western countries. Although the risk increases with daily alcohol consumption, alcoholic cirrhosis will only develop in a minority (10-15%) of heavy drinkers suggesting a genetic predisposition.

In collaboration with clinical scientists from England and Germany, two researchers from the Fund for Scientific Research - FNRS at the ULB, Dr. Eric Trépo under the supervision of Prof. Denis Franchimont, have identified two novel genes (TM6SF2 and MBOAT7) and have confirmed the major impact of a third one (PNPLA3)associated with an increased risk of alcoholic cirrhosis. This work has been published in the prestigious journal Nature Genetics.

This study suggests the deleterious effect of alcohol on liver fat metabolism in the liver cells. It is by its deleterious effect on fat metabolism that alcohol would lead to liver cirrhosis particularly in individuals carrying specific variations of these 3 susceptibility genes. This work was made possible thanks to the large population of patients in the past 12 years who agreed to donate blood samples for scientific research in the Department of Gastroenterology of Erasme Hospital, ULB.

This discovery may help in the estimation of risk for cirrhosis in heavy drinkers. These findings might allow a better understanding of the mechanisms leading to the development of alcoholic cirrhosis and help future clinical scientists identify new drug targets for this life threatening disease.

Doctors Eric Trépo, MD, PhD and Denis Franchimont, MD, PhD are gastroenterologists and researchers from the Fund for Scientific Research-FNRS.


信源地址:http://www.medicalnewstoday.com/releases/301306.php

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发表于 2015-10-22 11:04:14 | 显示全部楼层
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发表于 2015-10-22 12:56:48 | 显示全部楼层
酒精性肝硬化:一项重要的遗传进展

       全球高达4%的死亡事件是归因于过量饮酒。长期饮用酒精最主要影响的器官是肝脏。酒精误用是肝硬化的主要原因,并在西方肝硬化死亡率风险中排第一。尽管每天饮用酒精会增加患肝硬化的风险,但是在大量饮酒人群在只有小部分人发生酒精性肝硬化(10-15%),这意味着其中存在着遗传倾向性。
      与英国和德国的临床科学家合作,两位比利时科研基金会(FNRS)的研究者,Eric Trépo博士在Denis Franchimont教授的指导下,鉴定得到两种与酒精性肝硬化风险增加相关的新型基因(TM6SF2和MBOAT7),并确定另外一个已知基因(PNPLA3)也与酒精性肝硬化风险增加相关。这项工作发表在著名杂志《自然遗传》上。
      这项研究用肝细胞表明酒精对肝脏脂肪代谢具有毒性作用。通过对脂肪代谢的有毒作用,酒精可以导致肝硬化,尤其是带有上述3种易感基因特定变异的人群中。这项工作非常感谢比利时Erasme医院消化科过去12年里同意捐献血液样品供科学研究的一大群病人。
      这项发现可以帮助评估重度饮酒人群的肝硬化风险。这项发现有益于对酒精性肝硬化发生的机制的更好理解,并帮助以后的临床科学家鉴定靶向治疗这一危及生命的疾病的药物。
      Eric Trépo医生(MD, PhD)和Denis Franchimont(MD, PhD)是胃肠病专家和FNRS的研究员。

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 楼主| 发表于 2015-10-23 15:19:49 | 显示全部楼层
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