ArticleThe Journal of clinical investigation1994
Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil.
Article in The Journal of clinical investigation, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 74 citations in OpenAlex.
- Sarco/endoplasmatic reticulum calcium ATPase activity in healthy muscle and Brody disease.Biochemistry and biophysics reports · 2026Article
- The SERCA-PLN-DWORF axis in cardiometabolic disease: mechanisms and therapeutic perspectives.Cardiovascular diabetology · 2025Review
- CFTR corrector C17 rescues defective SERCA1 in bovine pseudomyotonia: a potential therapy for Brody myopathy.Human molecular genetics · 2025Article
- Zebrafish as a Model Organism for Research in Rare Genetic Neuromuscular Diseases.International journal of molecular sciences · 2025Review
- Muscle channelopathies: A review.Annals of the Child Neurology Society · 2023Review
- Case report: Revealing the rare-a Brody Disease patient from Turkey expanding the phenotype.Frontiers in genetics · 2023Article
- Case report: Clinical and molecular characterization of two siblings affected by Brody myopathy.Frontiers in neurology · 2023Article
- Differential Analysis of Gly211Val and Gly286Val Mutations Affecting Sarco(endo)plasmic Reticulum CaInternational journal of molecular sciences · 2022Article
- Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.Brain : a journal of neurology · 2020Article
- Calcium Dynamics Mediated by the Endoplasmic/Sarcoplasmic Reticulum and Related Diseases.International journal of molecular sciences · 2017Review
- Calcium-ATPases: Gene disorders and dysregulation in cancer.Biochimica et biophysica acta · 2016Review
- Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.Expert reviews in molecular medicine · 2016Article
- A novel bone morphogenetic protein 2 mutant mouse, nBmp2NLS(tm), displays impaired intracellular Ca2+ handling in skeletal muscle.BioMed research international · 2013Article
- Slowed relaxation and preserved maximal force in soleus muscles of mice with targeted disruption of the Serca2 gene in skeletal muscle.The Journal of physiology · 2011Article
- Genetic architecture of gene expression in ovine skeletal muscle.BMC genomics · 2011Article
- Life span extension via eIF4G inhibition is mediated by posttranscriptional remodeling of stress response gene expression in C. elegans.Cell metabolism · 2011Article
- Diminished sarco/endoplasmic reticulum Ca2+ ATPase (SERCA) expression contributes to airway remodelling in bronchial asthma.Proceedings of the National Academy of Sciences of the United States of America · 2009Article
- A defective SERCA1 protein is responsible for congenital pseudomyotonia in Chianina cattle.The American journal of pathology · 2009Article
- Calcium signaling: a tale for all seasons.Proceedings of the National Academy of Sciences of the United States of America · 2002Review
- Calcium regulation and muscle disease.Journal of muscle research and cell motility · 2002Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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