Related Experiment Video
Updated: Feb 22, 2026
07:59
Functional Characterization of Endogenously Expressed Human RYR1 Variants
Published on: June 9, 2021
3.1K
Idiopathic hyperCKemia and malignant hyperthermia susceptibility
Joilson M Santos1, Pamela V Andrade1, Leonardo Galleni2
1Center of Study, Diagnosis, and Investigation of Malignant Hyperthermia, Department of Surgery, Discipline of Anesthesiology, Pain and Intensive Care, São Paulo Medical School, Federal University of São Paulo, Rua Pedro de Toledo, 781 - 11°/ala direita, São Paulo, SP, CEP 04039-032, Brazil.
Canadian Journal of Anaesthesia = Journal Canadien D'Anesthesie
|September 28, 2017
Summary
Patients with persistent high creatine kinase (CK) levels, known as hyperCKemia, may be susceptible to malignant hyperthermia (MH). This study found a significant MH susceptibility in patients with unexplained hyperCKemia, highlighting the need for screening.
Area of Science:
- Neurology
- Genetics
- Anesthesiology
Background:
- HyperCKemia, defined as elevated serum creatine kinase (CK) levels, can be associated with neuromuscular disorders.
- Malignant hyperthermia (MH) is a critical condition linked to hyperCKemia, posing risks during anesthesia.
Purpose of the Study:
- To investigate malignant hyperthermia (MH) susceptibility in patients presenting with persistent hyperCKemia.
- To analyze RYR1 gene mutations in patients with hyperCKemia.
Main Methods:
- Epidemiologic, clinical, and laboratory data from patients at an MH center (1997-2012) were analyzed.
- In vitro contracture testing (IVCT), muscle histopathology, and next-generation sequencing for RYR1 mutations were performed.
Main Results:
- Six out of nine patients with hyperCKemia were identified as malignant hyperthermia susceptible (MHS) via IVCT.
- No pathogenic RYR1 mutations were found in the evaluated patients, despite MHS diagnosis.
- Muscle histopathology showed non-specific changes or mitochondrial proliferation in MHS patients.
Conclusions:
- Malignant hyperthermia (MH) susceptibility should be considered in the workup of idiopathic hyperCKemia.
- Genetic counseling and preventive measures are crucial for families of patients with hyperCKemia and MH susceptibility.
Related Concept Videos
01:25Increased Body Temperature
7.5K
A body temperature above 38°C (100.4 °F) is known as fever or pyrexia, and a person with fever is termed 'febrile.' Typically, the hypothalamus, a part of the brain that acts as the body's thermostat, regulates body temperature through a thermoregulatory setpoint. It receives signals from cold and warm thermal receptors throughout the body and adjusts the body's temperature accordingly. Fever occurs when this hypothalamic setpoint is altered, usually in...
7.5K
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
550
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
550
01:19Homeostatic Imbalances in Body Temperature
4.3K
Hyperthermia occurs when the body's temperature becomes unusually high, often due to heat exposure, intense physical activity, or certain illnesses. This condition can create a dangerous cycle where elevated body temperature increases the metabolic rate, generating more heat and potentially leading to organ failure and brain damage. A severe form of hyperthermia, called heat stroke, can raise body temperature to life-threatening levels. Fever, on the other hand, is a controlled form of...
4.3K
01:15Hypoglycemia and Glucagon
1.1K
Without prolonged fasting, healthy individuals maintain blood glucose levels above 3.5 mM due to a well-adapted neuroendocrine counterregulatory system that effectively prevents acute hypoglycemia, a potentially life-threatening condition. The primary clinical scenarios for hypoglycemia encompass diabetes treatment, inappropriate production of endogenous insulin or insulin-like substances by tumors, and the use of glucose-lowering agents in non-diabetic individuals. Notably, hypoglycemia in the...
1.1K
01:20Inborn Errors of Metabolism
937
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
937
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
24
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...
24