Document Detail

Zebrafish model for congenital myasthenic syndrome reveals mechanisms causal to developmental recovery.
MedLine Citation:
PMID:  23045675     Owner:  NLM     Status:  MEDLINE    
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 synaptic currents typical of SCS that transit to a much faster decay upon the appearance of adult ε, despite the α(twi) mutation. Thus, the continued expression of α(twi) into adulthood is tolerated because of the ε expression and associated recovery, raising the likelihood of unappreciated myasthenic cases that benefit from the γ-ε switch.
Michael Walogorsky; Rebecca Mongeon; Hua Wen; Nathan R Nelson; Jason M Urban; Fumihito Ono; Gail Mandel; Paul Brehm
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2012-10-08
Journal Detail:
Title:  Proceedings of the National Academy of Sciences of the United States of America     Volume:  109     ISSN:  1091-6490     ISO Abbreviation:  Proc. Natl. Acad. Sci. U.S.A.     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-24     Completed Date:  2013-01-07     Revised Date:  2013-07-11    
Medline Journal Info:
Nlm Unique ID:  7505876     Medline TA:  Proc Natl Acad Sci U S A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  17711-6     Citation Subset:  IM    
Vollum Institute, Oregon Health and Science University, Portland, OR 97239, USA.
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MeSH Terms
Base Sequence
DNA Primers
Disease Models, Animal*
Myasthenic Syndromes, Congenital / etiology*,  physiopathology
Patch-Clamp Techniques
Grant Support
//Howard Hughes Medical Institute
Reg. No./Substance:
0/DNA Primers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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