ArticleMolecular genetics & genomic medicine2014
Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility.
Article in Molecular genetics & genomic medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 23 citations in OpenAlex.
- Integrated Proteomic and Metabolomic Analysis of Muscle Atrophy Induced by Hindlimb Unloading.Biomolecules · 2024Article
- Prenatal phenotypes and pregnancy outcomes of fetuses with 16p11.2 microdeletion/microduplication.BMC pregnancy and childbirth · 2024Article
- 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
- Skeletal and cardiac muscle calcium transport regulation in health and disease.Bioscience reports · 2022Review
- Identification of Potential Biomarkers for Ryanodine Receptor 1 (RYR1) Mutation-Associated Myopathies Using Bioinformatics Approach.Disease markers · 2022Article
- Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.Brain : a journal of neurology · 2020Article
- Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.Molecular genetics & genomic medicine · 2019Article
- Pathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysis.Molecular genetics and metabolism reports · 2018Article
- Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait.Case reports in genetics · 2018Article
- Excitation-Contraction Coupling Alterations in Myopathies.Journal of neuromuscular diseases · 2016Review
- Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.BMC genomics · 2015Article
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Authors and funding
13 authors at 7 institutions in 2 countries.
Funding
Abstract
Whole exome sequencing (WES) was used to determine the primary cause of muscle disorder in a family diagnosed with a mild, undetermined myopathy and malignant hyperthermia (MH) susceptibility (MHS). WES revealed the compound heterozygous mutations, p.Ile235Asn and p.Glu982Lys, in ATP2A1, encoding the sarco(endo)plasmic reticulum Ca(2+) ATPase type 1 (SERCA1), a calcium pump, expressed in fast-twitch muscles. Recessive mutations in ATP2A1 are known to cause Brody myopathy, a rare muscle disorder characterized by exercise-induced impairment of muscle relaxation and stiffness. Analyses of affected muscles showed the absence of SERCA1, but SERCA2 upregulation in slow and fast myofibers, suggesting a compensatory mechanism that partially restores the diminished Ca(2+) transport in Brody myopathy. This compensatory adaptation to the lack of SERCA1 Ca(2+) pumping activity within the muscle explains, in part, the mild course of disease in our patient. Diagnosis of MHS in this family was secondary to a loss of SERCA1 due to disease-associated mutations. Although there are obvious differences in clinical expression and molecular mechanisms between MH and Brody myopathy, a feature common to both conditions is elevated myoplasmic Ca(2+) content. Prolonged intracellular Ca(2+) elevation is likely to have led to MHS diagnosis in vitro and postoperative MH-like symptoms in Brody patient.
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