Related Experiment Video
Updated: May 22, 2026
03:45
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Genetic predisposition to atorvastatin-induced myopathy: a case report
M Francesca Notarangelo1, N Marziliano, M Antonietta Demola
1Division of Cardiology, Azienda Ospedaliero-Universitaria of Parma, Parma, Italy. francescanotarangelo@yahoo.it
Journal of Clinical Pharmacy and Therapeutics
|May 16, 2012
Summary
Genetic factors, specifically the SLCO1B1 gene variant, increase the risk of statin-induced myopathy. Pharmacogenetic testing may benefit patients with a family history of statin-related muscle problems.
Area of Science:
- Pharmacogenomics
- Clinical Pharmacology
- Genetics
Background:
- Statin medications are widely prescribed for cardiovascular disease prevention.
- Muscle-related adverse effects, from myalgia to rhabdomyolysis, are a known complication of statin therapy.
- Genetic variations, particularly in the SLCO1B1 gene, are increasingly recognized as risk factors for statin-induced myotoxicity.
Observation:
- Two male patients within the same family presented with severe muscle pain and weakness while on atorvastatin.
- Both patients were found to be carriers of the loss-of-function rs4363657 polymorphism in the SLCO1B1 gene.
- Statin discontinuation led to the resolution of symptoms in both individuals.
Findings:
- The familial occurrence of statin-induced myopathy suggests a significant genetic predisposition.
- The presence of the SLCO1B1 rs4363657 variant was confirmed in both affected individuals.
- This case series highlights the role of SLCO1B1 genotype in statin myopathy risk.
Implications:
- Genetic factors significantly influence an individual's susceptibility to statin-induced myopathy.
- While routine genotyping before statin initiation is not currently advised, pharmacogenetic testing could be valuable for specific patient groups.
- Patients with a family history of statin-induced myopathy may benefit from genetic screening to assess their risk.
Related Concept Videos
01:20Lipid-Lowering Drugs: Statins and Miscellaneous Agents
Hyperlipidemia, a medical condition often referred to as high cholesterol, is characterized by abnormally elevated levels of lipids in the bloodstream. When present in excess, these lipids, specifically cholesterol and triglycerides, can lead to serious health complications, often involving cardiovascular diseases. Illnesses like atherosclerosis, heart attacks, and pancreatitis have all been linked to untreated hyperlipidemia. This means controlling and regulating cholesterol and triglyceride...
01:22Myasthenia Gravis ll: Pathophysiology
The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...
01:29Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
01:20Myasthenia Gravis: Overview and Treatment
Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which leads...
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which leads...
01:24Drug Toxicity: Risk factors
Adverse Drug Reactions (ADRs) are potential complications that arise during pharmacotherapy, influenced by multiple risk factors. Age plays a significant role; both neonates and the elderly are at heightened risk due to their respective immature and diminished metabolic and elimination processes. Gender also impacts ADRs, with females experiencing a 1.5 to 1.7-fold greater risk than males, which may be linked to pharmacokinetic, pharmacodynamic, and hormonal differences. Notably, neonates, the...