From the Guidelines
Genetic Abnormality and Anesthetic Resistance
The genetic abnormality that causes anesthetic resistance is primarily associated with a mutation in the RYR1 gene, which codes for the ryanodine receptor, as identified in studies such as 1 and 1. This mutation can lead to malignant hyperthermia (MH) susceptibility, a condition where certain anesthetics trigger a severe hypermetabolic state.
Key Points
- Individuals with a genetic variation in the RYR1 gene may have an increased risk of developing MH when exposed to triggering anesthetic agents, as noted in 1.
- The presence of an RYR1 mutation can be used for predictive genetic testing of relatives who may be at risk, as discussed in 1.
- It is essential to carefully evaluate each patient's response to anesthesia and adjust the dosage and type of anesthetic accordingly, rather than relying solely on genetic information, considering the complexity of the relationship between genetic abnormalities and anesthesia tolerance.
- Other genes such as CACNA1S and STAC3 are also implicated in MH susceptibility, as mentioned in 1, but RYR1 remains the most prominently associated gene with anesthetic resistance and MH susceptibility.
Clinical Implications
In clinical practice, identifying individuals with RYR1 mutations or other genetic variants associated with MH susceptibility is crucial for preventing MH episodes. This involves careful patient and family history taking, genetic testing when appropriate, and cautious use of anesthetics in individuals at increased risk, as guided by studies like 1, 1, and 1.
From the FDA Drug Label
RYR1 and CACNA1S are polymorphic genes, and multiple pathogenic variants have been associated with malignant hyperthermia susceptibility (MHS) in patients receiving volatile anesthetic agents, including sevoflurane. The genetic abnormality that causes anesthetic resistance is related to malignant hyperthermia susceptibility (MHS), which is associated with multiple pathogenic variants in the RYR1 and CACNA1S genes 2.
- RYR1 and CACNA1S are polymorphic genes.
- Multiple pathogenic variants have been associated with MHS in patients receiving volatile anesthetic agents, including sevoflurane.
From the Research
Genetic Abnormality and Anesthetic Resistance
There are no research papers to assist in answering this question. The provided studies do not directly address the genetic abnormality causing anesthetic resistance.
Related Genetic Studies
- The concept of genetic load is discussed in 3, which refers to the burden of disadvantageous genetic variants that can lead to diseases or morphological abnormalities.
- The study of molecular traits and their genetic association is presented in 4, which can help identify causative variants in complex diseases.
- The impact of age on genetic risk for common diseases is investigated in 5, which shows that genetic risk factors can have varying relative risk profiles over age.
- Sample size calculation in genetic association studies is discussed in 6, which highlights the importance of considering statistical and genetic parameters.
- The relationship between "race" and genetics in biomedical research is explored in 7, which discusses the challenges of quantifying sequence variation within and between human populations.