Expert Reviewed By: Dr. Brandon Colby MD
Aspartate aminotransferase (AST) is an enzyme primarily found in the liver, heart, and muscles. It plays a critical role in the metabolism of amino acids, the building blocks of proteins. AST levels in the blood can be indicative of various health conditions, including liver disease, heart disease, and muscular disorders. The AST1 gene has been linked to the regulation of serum AST levels, and understanding the genetic factors behind this regulation can provide valuable insights for diagnosis and treatment of related diseases. This article will explore the role of genetic testing in understanding, diagnosing, and managing disorders associated with AST1.
Understanding the Role of AST1 in Health and Disease
AST1 is a quantitative trait locus (QTL) that influences the serum level of aspartate aminotransferase. A QTL is a section of DNA that correlates with a particular trait, such as height, weight, or in this case, AST levels. Research into the genetic components of AST1 has revealed links between this locus and various health conditions. For example, a study on blood serum proteomics of inflammatory bowel disease (IBD) patients discovered that serum protein levels of MST1, which is regulated by the SNP rs3197999, could be influenced by genetic factors related to AST1. Similarly, a study on the ABCG2 gene found that a nonfunctional mutation in this gene is associated with a higher risk of gout in Asians due to increased uric acid deposition in the blood, which can also be linked to AST1.
Diagnosing Diseases Related to AST1
Diagnosing diseases related to AST1 typically involves measuring AST levels in the blood. Elevated AST levels can indicate liver damage, heart disease, or muscle disorders. However, it is essential to consider other factors, such as patient history and additional test results, to determine the underlying cause of elevated AST levels. Genetic testing can provide valuable information to help differentiate between various conditions and guide treatment decisions.
Genetic Testing for Inflammatory Bowel Disease
In the case of IBD, genetic testing can help identify patients with a higher risk of developing the disease due to genetic factors related to AST1. The blood serum proteomics study mentioned earlier found that 41 proteomic traits were influenced by cis pQTLs, which are genetic variations that affect the expression of nearby genes. By analyzing these traits, clinicians can gain valuable insights into the genetic factors contributing to IBD and develop personalized treatment plans for patients.
Genetic Testing for Gout
Similarly, genetic testing can help identify individuals at a higher risk of developing gout due to the nonfunctional mutation in the ABCG2 gene. The study on the ABCG2 gene found that this mutation is associated with a higher risk of gout in Asians. By identifying this mutation through genetic testing, clinicians can better predict the likelihood of gout development and implement preventive measures for at-risk individuals.
Using Genetic Testing for Disease Management
Genetic testing can not only aid in diagnosing diseases related to AST1 but also help guide treatment decisions and monitor disease progression. For example, in the case of nonalcoholic fatty liver disease (NAFLD), a study on TM6SF2 gene variants found that these variants are novel genetic predictors for nonalcoholic steatohepatitis, a severe form of NAFLD. By identifying these genetic predictors, clinicians can develop targeted therapies for patients with NAFLD and monitor their response to treatment.
Personalized Medicine and Disease Management
Genetic testing for AST1-related diseases has the potential to revolutionize the field of personalized medicine. By understanding the genetic factors that contribute to these conditions, clinicians can develop targeted therapies, implement preventive measures, and monitor disease progression more effectively. This personalized approach can lead to improved patient outcomes and a better understanding of the complex interplay between genetics and disease.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)