We have over 20,000 different genes in the body. These genes are like instruction manuals for how to build a protein, and each protein has an important function that helps to keep our body working how it should. The MYL2 gene makes a protein called beta (β)-myosin heavy chains (β-myosin). The β-myosin protein is most active in the heart and skeletal muscles (which help with movement) in our body. The β-myosin protein works with other proteins to create the force that is needed for our muscles to contract. This muscle contraction is how we move, and is how our heart pumps blood throughout our bodies.

If someone has a harmful change (called a pathogenic variant) in one of their MYL2 genes, then their body does not make as much β-myosin protein as it should. If there is not enough β-myosin protein, then the skeletal and cardiac muscles cannot contract as well as they should. This causes damage to these muscles, which can lead to familial hypertrophic cardiomyopathy.

Pathogenic variants in the MYL2 gene are passed through a family in an autosomal dominant pattern, meaning that anyone who carries the variant has a 50% chance to pass it down to any children they have. Women and men both have the MYL2 gene and have the same chances to inherit and pass down pathogenic variants.

Genetic Testing for MYL2

Genetic testing for pathogenic variants in MYL2 is currently available, but there are a few different ways to approach testing:

  • Single site analysis: Testing specific to a known pathogenic variant in the family
  • Full gene sequencing and rearrangement analysis: Comprehensive testing to search for all currently detectable pathogenic variants in the gene
  • Gene panels: Newer, more broadly based gene tests that would include not only the MYL2 gene, but other genes known or suspected to be associated with hereditary cardiovascular disease.

Click here to learn more about scheduling a genetic counseling appointment for questions about pediatric or adult genetic conditions.

Last updated on Sep 11th, 2019