导航遗传学揭示糖尿病抵抗的MAP

写的:

关闭 to one in 16 people worldwide is affected by diabetes mellitus and the number is rising rapidly¹. The clinical management of diabetes is often complicated by other factors and illnesses such as obesity, 肝肾疾病². Current treatments focus on managing symptoms instead of seeking to target the underlying causes directly. We are following the science to uncover new treatment approaches that could help many more people to live their lives free from diabetes.

只要一勺糖

Diabetes is a metabolic illness that results from a failure to correctly process sugar. As such, people with diabetes often need to carefully control when and how much sugar they eat.

The science of diabetes hinges on the hormone insulin which is made in the pancreas. 当澳门第一赌城在线娱乐吃东西时，血液中的糖含量会上升. 胰腺检测到这种变化并将胰岛素释放到血液中. 胰岛素是由肝脏细胞检测到的, 肌肉和脂肪组织, causing them to take up sugar from the blood and convert it into other molecules which store energy until it is needed.

People with diabetes either have type-1 diabetes where they do not produce insulin, 或者2型糖尿病，他们的身体停止对胰岛素的反应. Type-1 diabetes is usually diagnosed during childhood and can be treated with insulin injections. 大多数糖尿病患者(约95%)患有2型糖尿病, 哪个与不活跃的生活方式或高体重有关¹. 2型糖尿病在以后的生活中更为典型, although it is increasingly being seen in children mostly due to rising childhood obesity³. 除了, some people develop a form of diabetes when they are pregnant called gestational diabetes, 这通常会在分娩后解决吗.

有糖尿病的基因吗?

Although there is clear evidence that some people are genetically much more or less likely to develop one type of diabetes or the other, it has been hard to pinpoint the exact genes that affect the risk of type-1 and type-2 diabetes⁴.

Collecting information on human genetics is now much easier than it has ever been. 在世界范围内, there are many projects that have focused on gathering genetic data on large numbers of people to help us gain deeper insights into the relationships between our genes and complex diseases like diabetes. 记住这一点, in 2016 we set ourselves a bold ambition to analyse two million genomes by 2026 through our 综合基因组学计划⁵. Our aim is to leverage ongoing advances in genome technologies to uncover new disease insights and expand the therapeutic world that is available to those with chronic diseases. The information we gather using these approaches will be key to identifying the most appropriate genetic target for subpopulations of patients.

在最近的研究中 our scientists shared some of the results of this work in which they studied diabetes using over 800,000个样本来自多个基因组数据收集, 包括英国生物银行(450),000), Mexico City Prospective Study (MCPS; 100,000)和FinnGen (260),000).

There are many reasons to expect differences when comparing genetics from groups of people from the UK, 墨西哥和芬兰, so finding a genetic change that appears to prevent diabetes in all these groups of people is particularly exciting. 从英国生物银行开始, our scientists found that people that were unable to make a protein called MAP3K15 could be up to 35% less likely to develop diabetes, 1型和2型都有. 鉴于不同类型的糖尿病之间存在许多差异, 发现一个影响这两种风险的基因是不寻常的.

把MAP3K15放到地图上

在英国人身上发现了糖尿病和MAP3K15之间的联系, our scientists then went on to show the same pattern in samples from MCPS and FinnGen. They also dug deeper into the data to show that losing MAP3K15 protects people from diabetes no matter their body mass index (BMI). This too is unusual, since people with a higher BMI are much more likely to develop type-2 diabetes.

但MAP3K15是什么，它是如何预防糖尿病的? 简单的回答是，这是澳门第一赌城在线娱乐研究的关键下一步. 澳门第一赌城在线娱乐知道胰腺, 胰岛素是在哪里产生的, is one of the parts of the body where the gene that produces MAP3K15 is normally active. We also know that MAP3K proteins generally help cells to communicate by responding to chemical signals⁶. Our hope is that MAP3K15 could be an effective target for treating diabetes and data from the UK Biobank, MCPS和FinnGen显示，有数千个, 如果不是数百万的话, 世界范围内的低水平人群, 或者完全没有, MAP3K15基因的表达，其他方面都是健康的.

整体, we have shown that MAP3K15 is potentially a safe target for the prevention, 可能还有治疗, 两种形式的糖尿病. 如果在进一步的临床前研究之后证明是这样的话, 那么针对MAP3K15的药物可能会改变糖尿病的医疗保健, helping to stop the rapidly rising number of cases worldwide so that more people can live better, 更健康的生活.

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