Document Detail


Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil.
MedLine Citation:
PMID:  8040329     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Brody's disease, i.e., sarcoplasmic reticulum (SR) Ca(2+)-dependent Mg(2+)-ATPase (Ca(2+)-ATPase) deficiency, is a rare inherited disorder of skeletal muscle function. Pseudo-myotonia is the most important clinical feature. SR Ca(2+)-ATPase and Ca2+ homeostasis are examined in m. quadriceps and/or cultured muscle cells of controls and 10 patients suffering from Brody's disease. In both m. quadriceps and cultured muscle cells of patients, the SR Ca(2+)-ATPase activity is decreased by approximately 50%. However, the concentration of SR Ca(2+)-ATPase and SERCA1 are normal. SERCA1 accounts for 83 and 100% of total SR Ca(2+)-ATPase in m. quadriceps and cultured muscle cells, respectively. This implies a reduction of the molecular activity of SERCA1 in Brody's disease. The cytosolic Ca2+ concentration ([Ca2+]i) at rest and the increase of [Ca2+]i after addition of acetylcholine are the same in cultured muscle cells of controls and patients. The half-life of the maximal response, however, is raised three times in the pathological muscle cells. Addition of dantrolene or verapamil after the maximal response accelerates the restoration of the [Ca2+]i in these muscle cells. The differences in Ca2+ handling disappear by administration of dantrolene or verapamil concomitantly with acetylcholine. The reduced Ca2+ re-uptake from the cytosol presumably due to structural modification(s) of SERCA1 may explain the pseudo-myotonia in Brody's disease. Single cell measurements suggest a beneficial effect of dantrolene or verapamil in treating patients suffering from Brody's disease.
Authors:
A A Benders; J H Veerkamp; A Oosterhof; P J Jongen; R J Bindels; L M Smit; H F Busch; R A Wevers
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Journal of clinical investigation     Volume:  94     ISSN:  0021-9738     ISO Abbreviation:  J. Clin. Invest.     Publication Date:  1994 Aug 
Date Detail:
Created Date:  1994-08-25     Completed Date:  1994-08-25     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  7802877     Medline TA:  J Clin Invest     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  741-8     Citation Subset:  AIM; IM    
Affiliation:
Department of Biochemistry, University of Nijmegen, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Acetylcholine / pharmacology
Adolescent
Adult
Calcium / metabolism*
Calcium-Transporting ATPases / deficiency*
Cells, Cultured
Child
Dantrolene / pharmacology*
Female
Homeostasis
Humans
Male
Middle Aged
Muscles / metabolism*
Myotonia / metabolism*
Sarcoplasmic Reticulum / enzymology*
Sodium-Potassium-Exchanging ATPase / metabolism
Verapamil / pharmacology*
Chemical
Reg. No./Substance:
51-84-3/Acetylcholine; 52-53-9/Verapamil; 7261-97-4/Dantrolene; 7440-70-2/Calcium; EC 3.6.1.8/Calcium-Transporting ATPases; EC 3.6.3.9/Sodium-Potassium-Exchanging ATPase
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