PNAS:耶鲁大学研究:两种药物的结合可治疗罕见退行性疾病!

2020-07-21 转化医学网 转化医学网

近日,耶鲁大学的研究人员发表在《美国国家科学院院刊》上的论文指出,两种药物的结合可治疗沃尔夫勒姆综合征。

耶鲁大学药理学教授芭芭拉·埃尔利希(Barbara Ehrlich)和她的团队发现了一种罕见的致命疾病——沃尔夫勒姆综合征(Wolfram Syndrome)的致病机制,以及一种潜在的治疗方法。他们的研究成果在7月6日发表在《美国国家科学院院刊》上。

沃尔夫勒姆综合征是一种神经退行性疾病,世界上每50万人中就有一人患有这种疾病,其特征是在儿童时期出现糖尿病,在青少年时期出现精神症状、视力丧失、耳聋和尿失禁。大多数患者死于30多岁。该病目前尚无治疗方法。

这项新的研究证实了人体细胞内的钙起到了关键作用,并提出了一种使用两种现有药物的潜在治疗方法。特别是,埃尔利希的团队确认了当蛋白Wolframin在胰脏(调节血糖的器官)细胞中丢失时,钙信号就会出错。这会导致细胞存活率降低,胰岛素分泌减少,进而引发疾病的衰弱症状。

研究人员测试了一些化合物在恢复钙信号和改善细胞功能方面的效果,发现了两种有效的药物——异丁司特和一种钙蛋白酶抑制剂。在韩国和日本,异丁司特已经被批准用于治疗哮喘近20年了。目前,异丁司特正在美国进行一系列临床试验,包括多发性硬化症(MS)和肌萎缩性脊髓侧索硬化症(ALS)的可能治疗,以及正在耶鲁大学进行的COVID-19试验。

人体大约99%的钙可以在骨骼和牙齿中找到。另外的1%存在于细胞和体液中,支持多种重要的生物学功能。埃尔利希实验室对后者与沃尔夫勒姆综合征的关系进行了详细研究。这种基于液体的钙对于肌肉收缩、神经功能和胰岛素分泌是必需的。

埃尔利希表示,钙是一种信号分子,它会发出信号,何时应该分泌胰岛素。反过来,钙信号是由钙结合蛋白调控的,包括神经钙传感器-1 (NCS-1),这是一种埃尔利希的实验室在过去20年里研究的蛋白质。

埃尔利希实验室工作的德国医科学生汤姆·T·费舍尔(Tom T. Fischer)表示,“第一步是更好地了解Wolframin蛋白的作用,在我们缺乏Wolframin的细胞模型中,我们测量了细胞内的钙,发现钙信号以及依赖钙的细胞功能,特别是胰岛素分泌和细胞活力,都被破坏了。”

然后他们测试了一些药物化合物,发现异丁司特和钙蛋白酶抑制剂恢复了细胞内的钙和细胞功能。在耶鲁大学Blavantik创新基金的支持下,埃尔利希团队将在接下来的六个月内开始一项小鼠研究,以进一步证实这些药物在纠正钙信号和防止沃尔夫勒姆综合征进展方面的有效性。研究人员说,如果动物实验的结果显示出希望,它们可以迅速进入人体试验。

原始出处:

Lien D. Nguyen,Tom T. Fischer, Damien Abreu, et al. Calpain inhibitor and ibudilast rescue β cell functions in a cellular model of Wolfram syndrome. PNAS first published July 6, 2020 https://doi.org/10.1073/pnas.2007136117.

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    2021-02-01 drwjr
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    2020-07-23 1209e435m98(暂无昵称)

    学习了

    0

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    2020-07-23 syscxl
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    2020-07-22 gq1688888

    视频

    0

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    2020-07-22 yangchou

    罕见疾病治疗也要重视

    0

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