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英国病友介绍在牛津大学进行的有关肯尼迪病的学术报告内容

病友黑-阿米其推荐了一个英国病人介绍一次学术报告的内容如下:


Lecture by Dr Fischbeck at Oxford University.

SEPTEMBER 13, 2016 / KDUKBLOG

Prior to this lecture at Oxford, my understanding of KD has been superficial but after reading an explanation by Dr Fischbeck and attending his lecture at Oxford University I have a much better grasp.


We have a repeat of a CAG pattern in the Androgen Receptor gene on our X chromosome. If one has up to 36 repeats you will not have KD but 38 and above you will and generally the more repeats the earlier the onset and severity. These extra repeats cause us to produce a longer Androgen Receptor protein which isn’t good but in itself would not cause KD, it is the toxicity it causes to the neurons and muscle cells this in turn damages the cells and ultimately results in the death of these cells. Below is the more technical description, took me several hours and Wikipedia to get a basic understanding.


So what is happening in the world of research regarding treatment? Well there are research groups in America, Copenhagen, Padua, Nagoya and here in London and Oxford. There is research mainly in five areas.


Testosterone assists in the process of this toxic damage so they have been looking at reducing the level of testosterone. Trials have taken place in Japan and in the USA but the results show only small gains and unfortunately the side effect is to decrease the patient’s quality of life. They have not abandoned this line of research but are trying to refine the reduction of the androgen to affect targeted areas only.


A drug used for prostate cancer HSP90 (heat shock protein) has also been tested because it increases or enhances cellular protection and reduces the toxic effect. This has worked in mice; a trial is planned with patients.


We lose muscle strength due to the toxic effects and ways to strengthen muscles was investigated, but it was found that exercise was the least invasive and produced similar results to drugs used. So regular aerobic exercise is highly recommended, but care should be taken not to overdo exercise as this is detrimental to the muscles of a KD sufferer.


Another avenue being explored is injections of micro RNA focusing at altering the RNA to stop producing the mutant protein, has worked in mice, but in humans?


Lastly Dr Fischbeck is working with groups on a synthetic curcumin which show good lab results in reducing toxicity and strengthening the x cells ability to resist. We asked how this research was going and was told trials possibly in the UK would start in the near future. It was stated many times during the lecture that intervention at an early stage gave better results. So I asked what at 63 could I expect if trials went well, he stated he believed I could regain some of my strength.


I had thought that no treatment would be available in my lifetime hopefully I will be proved wrong. To finish, Dr Fischbeck said our best tool for overcome this disease is Hope.


(开头几段介绍肯尼迪病的一些知识,病友都熟知,就不翻译了)

报告由研究肯尼迪病的专家Fischbeck博士讲述:

当今世界上关注肯尼迪病治疗的研究情况如何?主要在美国,丹麦的哥本哈根,意大利的帕杜阿,日本的名古屋和英国伦敦的牛津大学这五个地区研究机构正在开展研究。

使用雄激素睾酮会增加毒性而带来损害,因此人们希望降低雄激素的水平。临床试验在日本和美国进行(指亮丙瑞林的临床试验)。不幸的是试验结果仅仅有很小的收获,而药物的副作用降低了病人的生活质量。但是他们还没有放弃这一研究方向,正试图通过改善雄激素的减少来作用于靶区域。

一种治疗前列腺癌症的药物HSP90(一种热休克蛋白)已经因为该药物对细胞的增强保护和降低毒性的功能进行了试验检测。这一工作是在小鼠实验进行的,人的临床试验正计划进行。

由于毒害效应我们损失了肌肉的力量,人们对增强肌肉力量的方法也进行了调查研究,发现锻炼有类似药物治疗的效果。所以我们强烈推荐有规律的有氧运动。但是必须注意不要过量的锻炼。超负荷的运动对肌肉会造成损伤。

博士近期正和他的研究组开展人工合成姜黄素的研究工作,这种姜黄素在减少中毒和增强X细胞抵抗力方面有很好的实验室效果。我们询问了这一工作是怎样是进行的,并被告知,很可能临床试验不久就可能在英国开始。

在报告中,博士多次说到了这种姜黄素的较早期的研究给出了较好的结果。我问:我能否在63岁前能够期待这一临床试验有好的结果?他说,相信我的体能会因此得到一定程度的恢复。

我原来认为,在我的有生之年里不可能找到治疗的方法了。现在证明我错了。

作为结束,Fischbeck博士说:“我们克服这种疾病的最好方法就是“抱有希望!”


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