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美国病友的一封涉及肯尼迪病的信

黑-阿米其推荐了一封美国病友写给美国肯尼迪病协会负责人之一布鲁斯的信。如下:

Dear Bruce,

Thank you for sharing this important study.

After the bad news about BVS857 trial, I searched the literature again and I, too, found this publication. And it gave me some new hopes. Let me underline a few points in the study.

I found momentous the following sentences:

"...both type I and type II fibers were significantly reduced in size in exercised AR113Q mice, whereas WT muscle showed the opposite effect." WT means 'wild type'=healthy. So here is the reason of our common experience that our muscles need really long time to regenerate after a hard exercise: our muscles tolerate badly the overuse and we must exercise really carefully.

Another important message of the article: "These findings add to a growing appreciation of non-neuronal phenotypes in this disorder, and raise the possibility that targeting metabolic alterations may alleviate disease manifestations. In support of this hypothesis is recent work demonstrating that feeding mice a high fat diet diminishes aspects of the SBMA phenotype (Rocchi et al., 2016)." Shortly: trying the fat rich diet is a possibility, however, you have to consider your body weight as well. You have to consult your physician first, of course, but, theoretically, it may help. (As a Hungarian I am lucky because the Hungarian food is fat-rich...)

And finally the most important (IMHO): "we speculate that targeting the metabolic phenotype triggered by expression of the polyQ AR may be particularly effective in rescuing non-neuronal manifestations of the disease, including important aspects of skeletal muscle dysfunction." It gives us hope because the non-neuronal targets are easier to reach with drugs, and if you look at the successful Nusinersen-trial, they used the same gene silencing technic as in this animal experiments. I feel the solution is pretty near.

Best regards,

Istvan R.



译文:

亲爱的布鲁斯,谢谢你让我分享这篇重要的研究文章。在知道了BVS857临床试验失败的消息后,我再次检索了文献。也发现了这篇论文。这篇文章给了我们新的希望。让我列举文章中重要的几点。

我发现下面的重要的句子“....在经过体能锻炼的标号AR113Q小鼠体内一型和二型纤维明显的减少了,而WT肌肉却表现出相反的效应。WT的意思是自然类型,也就是健康型的意思。所以,这就是通常我们需要锻炼的理由。但是我们的肌肉在严酷锻炼以后需要很长的时间才能恢复。因为我们的肌肉经历了很糟的过载,所以我们的锻炼需要非常小心。论文中另一个要点是:“这些发现增加了在这个疾病中非神经细胞表型生长的可能性 。而且也提高了这种可能性。支持这一假设的是最近的一项研究工作,用高脂饮食减肥方法喂养的小鼠减轻了其表现的症状。简而言之,高脂肪饮食用于减肥是可行的,但是你同时要考虑你的体重。你首先要询问你的理疗师

当然这是从理论上讲可能对你有帮助的。即靶向代谢改变可以缓解疾病的表现。” 

最后,最重要的“我们推测被雄激素受体CAG重复数表达的

靶向代谢表型在挽救疾病的非神经表现,包括骨肌肉功能障碍的重要方面可能是特别有效的。 它给我们带来希望。因为对非神经靶,药物更容易到达并发挥作用。看看纽西纳森他们在动物中进行的

同基因编辑技术的成功,我感觉问题的解答已经很近了。


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