Aim: To examine the genetic differences between subjects with statin-associated muscle symptoms and statin-tolerant controls.
Materials & Methods: Next-generation sequencing was used to characterize the exomes of 76 subjects with severe statin-associated muscle symptoms and 50 statin-tolerant controls.
Results: 12 probably pathogenic variants were found within the RYR1 and CACNA1S genes in 16% of cases with severe statin-induced myopathy representing a fourfold increase over variants found in statin-tolerant controls. Subjects with probably pathogenic RYR1 or CACNA1S variants had plasma CK 5X to more than 400X the upper limit of normal in addition to having muscle symptoms.
Conclusions: Genetic variants within the RYR1 and CACNA1S genes are likely to be a major contributor to the susceptibility to statin-associated muscle symptoms.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563124 | PMC |
| http://dx.doi.org/10.2217/pgs-2018-0106 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A Homozygous MYH1 Variant Underlies Autosomal Recessive Isolated Recurrent Rhabdomyolysis.
Am J Med Genet A
December 2024
Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.
Rhabdomyolysis is a severe condition involving the breakdown of skeletal muscle fibers, leading to the release of muscle components into the bloodstream, which can lead to potential complications such as acute kidney injury and electrolyte imbalances. The etiology of rhabdomyolysis is multifactorial, encompassing traumatic, exertional, metabolic, infectious, toxic, and genetic causes. Genetic causes, including variants in LPIN1, RYR1, and CACNA1S, are increasingly recognized as significant contributors to recurrent rhabdomyolysis.
View Article and Find Full Text PDFNovel ryanodine receptor 1 (RYR1) missense gene variants in two pet dogs with fatal malignant hyperthermia identified by next-generation sequencing.
Vet Anaesth Analg
October 2024
Comparative Pharmacogenomics Laboratory, Program in Individualized Medicine, Department of Veterinary Clinical Sciences, College of Veterinary Medicine, Washington State University, Pullman, WA, USA. Electronic address:
Objective: Evaluate a precision medicine approach to confirm a tentative diagnosis of fatal malignant hyperthermia (MH) in isoflurane-anesthetized pet dogs by identifying novel risk variants in known MH susceptibility genes.
Study Design: Retrospective case series.
Animals: A male Pit Bull mix aged 7 years (case #1), a male Golden Retriever aged 12 months (case #2) and the dam and sire of case #2.
Uncovering novel pathogenic variants and pathway mutations in triple-negative breast cancer among the endogamous mizo tribe.
Breast Cancer Res Treat
October 2024
Department of Biotechnology, Mizoram University, Tanhril, Aizawl, Mizoram, 796004, India.
Article Synopsis
- The study focuses on the higher incidence of triple-negative breast cancer (TNBC) in India, specifically in Mizoram, and aims to identify novel genetic variants associated with the disease.
- Researchers analyzed whole exome sequencing data from TNBC patients to uncover significant mutations, finding that TP53 and several other genes were frequently mutated in patients.
- The research highlighted the presence of novel variants and potential therapeutic targets, suggesting that further exploration of specific genes could lead to advancements in TNBC treatment.
Incidence of statin-associated muscle symptoms in patients taking statins with or variants.
Per Med
July 2024
Department of Sanford Imagenetics, Sanford Health, Sioux Falls, SD 57117, USA.
Statins are commonly used medications. Variants in , , and are known predictors of muscle effects when taking statins. More exploratory genes include and , which can also be associated with disease conditions.
View Article and Find Full Text PDFDetection of the T1640C mutation indicating malignant hyperthermia in dogs.
Vet Med (Praha)
November 2023
Department of Biology and Physiology, University of Veterinary Medicine and Pharmacy in Košice, Košice, Slovak Republic.
Malignant hyperthermia (MH) is a clinical syndrome exhibiting elevation of expired carbon dioxide, hyperthermia, muscle rigidity, rhabdomyolysis, acidosis and hyperkalaemia, as well as cardiac dysrhythmia and renal failure. The syndrome manifests itself as a response to anaesthetic agents, such as e.g.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!