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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Zebrafish model for congenital myasthenic syndrome reveals mechanisms causal to developmental recovery
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Zebrafish model for congenital myasthenic syndrome reveals mechanisms causal to developmental recovery

机译：先天性肌无力综合征的斑马鱼模型揭示了发育恢复的原因

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摘要

Mutations in muscle ACh receptors cause slow-channel syndrome (SCS) and Escobar syndrome, two forms of congenital myasthenia. SCS is a dominant disorder with mutations reported for all receptor subunits except γ. Escobar syndrome is distinct, with mutations located exclusively in γ, and characterized by developmental improvement of muscle function. The zebrafish mutant line, twister, models SCS in terms of a dominant mutation in the α subunit (α_(twi)) but shows the behavioral improvement associated with Escobar syndrome. Here, we present a unique electrophysiological study into developmental improvement for a myasthenic syndrome. The embryonic α_(twi)βδγ receptor isoform produces slowly decaying syn-aptic currents typical of SCS that transit to a much faster decay upon the appearance of adult e, despite the α_(twi) mutation. Thus, the continued expression of α_(twi) into adulthood is tolerated because of the e expression and associated recovery, raising the likelihood of unappreciated myasthenic cases that benefit from the γ-ε switch.
机译：肌肉ACh受体的突变会导致慢通道综合征（SCS）和Escobar综合征，这是两种先天性肌无力的形式。 SCS是一种显性疾病，据报道除γ外的所有受体亚基都有突变。埃斯科巴尔综合症很明显，仅在γ中存在突变，其特征是肌肉功能的发育改善。斑马鱼突变体扭转线以α亚基（α_（twi））的显性突变为SCS模型，但显示出与Escobar综合征相关的行为改善。在这里，我们提出了一项针对肌无力综合症发展改善的独特电生理研究。胚胎α_（twi）βδγ受体同工型产生缓慢衰减的SCS典型的突触电流，尽管存在α_（twi）突变，但成年e出现后，其突触电流转换为更快的衰减。因此，由于e的表达和相关的恢复，α_（twi）持续表达到成年是可以容忍的，从而增加了受益于γ-ε转换的未意识到的肌无力病例的可能性。

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  • 作者

    Michael Walogorsky; Rebecca Mongeon; Hua Wen; Nathan R. Nelson; Jason M. Urban; Fumihito Ono; Gail Mandel; Paul Brehm;

  • 作者单位

    Vollum Institute and Oregon Health and Science University, Portland, OR 97239;

    Vollum Institute and Oregon Health and Science University, Portland, OR 97239,Howard Hughes Medical Institute, Oregon Health and Science University, Portland, OR 97239;

    Vollum Institute and Oregon Health and Science University, Portland, OR 97239;

    Vollum Institute and Oregon Health and Science University, Portland, OR 97239,Howard Hughes Medical Institute, Oregon Health and Science University, Portland, OR 97239;

    National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD 20852;

    National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD 20852;

    Vollum Institute and Oregon Health and Science University, Portland, OR 97239,Howard Hughes Medical Institute, Oregon Health and Science University, Portland, OR 97239;

    Vollum Institute and Oregon Health and Science University, Portland, OR 97239;

  • 收录信息 美国《科学引文索引》(SCI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类
  • 关键词

    neuromuscular; quinidine; nicotinic receptor;

    机译：神经肌肉奎尼丁烟碱受体;

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