CPT2 rs1057517510: Understanding Stress-Induced Myopathy Risks
The rs1057517510 variant is a genetic change located within the CPT2 gene, which is essential for energy production in muscle cells. This variant is associated with the myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, a condition that can cause muscle pain and weakness during periods of metabolic stress.
What each genotype means
Carrier status
You carry one copy of this duplication variant. Because carnitine palmitoyltransferase II deficiency is typically inherited in an autosomal recessive manner, carrying a single copy is generally not expected to cause the condition, though you should discuss any concerns about metabolic health with a healthcare provider.
This genotype is rare in the general population.
Increased risk profile
You carry two copies of this duplication variant. This genotype is associated with stress-induced myopathic forms of carnitine palmitoyltransferase II deficiency, a condition that can lead to muscle pain and weakness during physical stress or illness. Please consult with a medical professional or genetic counselor to discuss these findings and any necessary clinical follow-up.
This genotype is extremely rare in the general population.
What is the CPT2 Gene?
The CPT2 gene provides the instructions for creating the carnitine palmitoyltransferase 2 enzyme. This enzyme is a critical component of the mitochondrial machinery that allows the body to process long-chain fatty acids. By facilitating the transport of these fats into the mitochondria, the enzyme enables the body to convert stored fat into usable energy. This process is particularly vital for tissues with high energy demands, such as the heart and skeletal muscles. When the CPT2 gene contains variants that reduce the activity of this enzyme, the body may struggle to produce sufficient energy during times of increased demand, such as prolonged exercise, fasting, or exposure to cold temperatures.
Understanding the rs1057517510 Variant
The rs1057517510 variant is a specific alteration in the DNA sequence of the CPT2 gene. Genetic variants like this can lead to the production of an enzyme with diminished function. In the context of CPT2, reduced enzyme activity impairs the body's ability to oxidize fats, which are a primary fuel source for muscles. Research indicates that this variant is linked to the myopathic form of CPT II deficiency. This condition is characterized by episodes of muscle pain, stiffness, and myoglobinuria—a condition where muscle breakdown products are released into the urine, often turning it a rust color. These symptoms are typically triggered by metabolic stressors, including intense physical exertion or extended periods without food.
Evidence and Clinical Associations
The association between CPT2 variants and myopathic deficiency is well-documented in scientific literature. While the most common variant associated with this condition is Ser113Leu, other variants, including those cataloged under rs1057517510, are investigated for their role in the same clinical spectrum. Evidence for these variants is generally considered moderate, as they are often identified in individuals presenting with exercise-induced muscle symptoms. It is important to note that CPT II deficiency is typically inherited in an autosomal recessive pattern, meaning an individual usually needs two variants to manifest the full condition. However, some research suggests that even individuals with a single variant (heterozygotes) may occasionally experience mild symptoms under extreme physical stress, though this remains an area of ongoing study.
Population Frequency and Prevalence
The rs1057517510 variant is classified as rare in the general population. Because it is a rare variant, it is not commonly found in large-scale genomic databases at high frequencies. The prevalence of CPT2-related myopathic deficiency varies by ancestry, with certain mutations being more common in specific ethnic groups, such as the Ashkenazi Jewish population. Due to its rarity, most individuals will not carry this specific variant. When it is identified, it is usually through clinical testing prompted by a history of unexplained muscle pain or rhabdomyolysis following intense exercise or fasting.
Managing Genetic Information
If you have received information regarding a CPT2 variant, it is essential to interpret it within the context of your overall health. Genetic variants do not always lead to clinical disease, and the presence of a variant does not constitute a medical diagnosis. If you are concerned about your risk for CPT II deficiency or have experienced symptoms like muscle pain or dark urine after exercise, you should consult with a healthcare professional or a genetic counselor. They can help determine if further diagnostic testing is appropriate. Never make changes to your diet, exercise routine, or medical management based on genetic data without first discussing these findings with your clinician or a qualified specialist.
How common is this variant?
The rs1057517510 variant is considered rare across all major global populations.
Frequently asked questions
What is CPT II deficiency?
CPT II deficiency is a metabolic disorder that prevents the body from breaking down long-chain fatty acids for energy. This can lead to muscle pain, weakness, and other symptoms, especially during exercise or fasting.
Can I be a carrier for CPT2 variants?
Yes, it is possible to be a carrier, meaning you have one copy of a variant. Carriers typically do not show symptoms, though some research suggests they might experience mild issues under extreme physical stress.
How is CPT2 deficiency diagnosed?
Diagnosis typically involves a combination of clinical evaluation, blood tests for muscle enzymes like creatine kinase, and genetic testing to identify variants in the CPT2 gene.
Is there a cure for CPT2 deficiency?
There is no cure, but the condition is often managed by avoiding known triggers. This includes maintaining a diet low in long-chain fats, avoiding fasting, and managing exercise intensity under medical guidance.
Sources & further reading
Educational information only, last refreshed 10/14/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs1057517510?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants in CPT2
This variant in the CPT2 gene is involved in fatty acid oxidation, which is essential for energy production during metabolic stress.
This variant is associated with stress-induced myopathic forms of Carnitine palmitoyltransferase II deficiency.
Pathogenic missense variant (p.Ser113Leu) in CPT2 causing carnitine palmitoyltransferase II deficiency, predominantly the adult myopathic form.