导致“心脏破裂”的基因突变
[ 2006-7-21 23:53:00 | By: 云栈洞主人 ]
 

得克萨斯大学西南医学中心的研究人员发现导致“心脏破裂”的基因突变

 

【云栈自译,欢迎批评。请勿转载,谢谢合作】

 

DavidShi译文】得克萨斯大学西南医学中心的研究人员发现一组果蝇基因突变导致胚胎“心脏破裂”,此发现有助于识别引起人类心脏缺陷的基因。

 

今天出版的《科学》杂志发表了此项研究。该文资深作者埃里克·奥尔森博士是西南医学中心分子生物学系主任,他说:“我们设计并培育一种心脏能发光的果蝇的时候,非常意外地发现一种新的畸形类型。有这种缺陷的胚胎心脏的2种心脏细胞相互分离,从而引起心脏破裂,心脏功能丧失和胚胎死亡。因此我们将这命名为‘心脏破裂’型缺陷”。

 

心脏是胚胎中第一个形成并发挥功能的器官。如果复杂的心脏形成过程发生异常,心脏就出现先天性缺损,这是人类最常见的出生缺陷,约1%的新生儿患此病。在动物世界里,心脏形成过程很类似,所以果蝇成了研究哺乳类心脏缺陷病因的模型动物,奥尔森博士说道。

 

一些酶在合成一种小分子脂质的途径中发挥作用,研究人员发现,如果编码这些酶的基因发生突变,那么果蝇就产生“心脏破裂”型缺陷。β--β-甲基戊二酸单酰辅酶A还原酶是其中之一,它还在人类的胆固醇合成中发挥关键作用。果蝇需要这些酶来合成小分子脂质;这种脂质能修饰一种心脏形成所必需的信号蛋白。此项研究提示,人类心脏形成和先天性心脏病有着相同的生化途径。

 

奥尔森博士是汉姆癌症基础研究中心和尼尔堡儿科肿瘤学家庭中心的南希和杰克的导师。他说:“我们吃惊地发现,在形成成心脏过程中,一组参与合成脂质的酶发挥着此前未知的功能。”

 

这些发现加深了我们对于鉴别出引起心脏缺陷的基因的认识;遗传筛选此类缺陷的开发研究也朝前迈进了一步,奥尔森博士说。

 

“很有意思的是,由于对心脏形成所知甚少,当初我们并未料到这些共同参与胆固醇和脂质合成的酶会在一个器官的发育中发挥重要作用,”他说。

 

此项研究的一个目标是绘制出心脏形成的遗传蓝图。为此,西南中心的科学家们设计并培育出心脏表达绿色荧光蛋白的果蝇。“该果蝇的心脏能发光,这使得我们能够首次高分辨地活体观察心脏发育的细节,”韩哲(音译)博士说。韩是一位研究导师,同时也是本研究的联合第一作者和联合通讯作者。

 

来源:得克萨斯大学西南医学中心

 

 

请问Hamon Center for Basic Research in Cancer and the Nearburg Family Center for Basic Research in Pediatric Oncology有固定翻译吗?

 

 

【英文原文】

UT Southwestern researchers find gene mutation that leads to 'broken hearts'

 

Researchers at UT Southwestern Medical Center have identified a group of fruit fly gene mutations responsible for "broken hearts" in the embryonic stages of development, a discovery that could help identify genes that cause human heart defects.

 

"We engineered a fruit fly so that the heart would glow in the dark and found a new type of malformation, completely unexpectedly," said Dr. Eric Olson, chairman of molecular biology at UT Southwestern and senior author of the study appearing in today's issue of Science. "We coined the term 'brokenhearted' for this defect because two kinds of cardiac cells separated, thus causing the heart to fall apart, with a loss of heart function and embryonic death."

 

The heart is the first organ to form and function in the embryo. Abnormalities in the complex process of heart formation result in congenital heart defects, the most common birth defects in humans afflicting about 1 percent of newborns. Because the events of heart formation are very similar throughout the animal world, the fruit fly is a useful model to study the causes of heart defects in mammals, Dr. Olson said.

 

The researchers found that mutations in genes encoding enzymes in a pathway for synthesis of a small lipid caused this broken heart defect in fruit flies. One of these enzymes, HMG CoA reductase, also plays a key role in the synthesis of cholesterol in humans. In fruit flies, these enzymes are required to generate a small lipid to modify a signaling protein, which is required for heart formation. The study suggests the involvement of the same biochemical pathway in human heart formation and congenital heart disease.

 

"We were surprised to discover that a group of enzymes involved in lipid synthesis plays a previously unrecognized role in assembling the heart. The same mechanism is likely to be involved in human-heart development," said Dr. Olson, director of the Nancy B. and Jake L. Hamon Center for Basic Research in Cancer and the Nearburg Family Center for Basic Research in Pediatric Oncology.

 

The findings further our understanding of the identity of genes that can cause heart defects and also serve as a step in developing genetic screening for such defects, Dr. Olson said.

 

"It was very interesting because so little is known about how the heart forms and we did not anticipate that the same enzymes involved in cholesterol and lipid synthesis might play an important role in the development of an organ," he said.

 

One of the goals of this research is to define the genetic blueprint for how the heart forms. In order to do that, the UT Southwestern scientists engineered fruit flies whose hearts glow by expressing a gene coding for green fluorescent protein specifically in the heart. "This fly with a glowing heart enables us to visualize the details of heart development with high resolution in living animals and to detect cardiac defects that have never been described before", said Dr. Zhe Han, research instructor and co-first / co-senior author of this study.

 

Source : UT Southwestern Medical Center

 

 
 
  • 标签:心脏 基因 缺陷 果蝇 
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