Editor’s note: Pending an FDA decision, 23andMe no longer offers new customers access to health reports referred to in this post. Customers who purchased prior to November 22, 2013 will still be able to see their health reports, but those who purchased after that time will not. Those customers will have access to ancestry information as well as access to their uninterpreted raw data.
What are you doing this month to celebrate matters of the heart? No, we’re not talking about your Valentine’s Day plans; we’re talking about your heart health plans. February is American Heart Month. One way to observe this special month is to learn about heart health genetics, and one place to start is 23andMe’s newest genetic report on TTR-Related Cardiac Amyloidosis.
Cardiac amyloidosis is a heart condition caused by protein buildup. This protein buildup can thicken and stiffen the walls of the heart, leading to heart failure. The condition is of particular importance for African Americans, who are more likely to develop certain types of cardiac amyloidosis. A specific type caused by buildup of the protein transthyretin is especially common, accounting for about a quarter of all cardiac amyloidosis cases within the African American community.
Certain mutations in a gene called TTR (which encodes the protein transthyretin) increase one’s risk for this disease. The V122I mutation is the most common of these mutations in the United States and three to four percent of African Americans have this mutation. One study found that the mutation increased the risk of heart failure by 2.6 times in African Americans over the age of 65.
Not everyone with the V122I mutation will develop cardiac amyloidosis. In addition, elderly individuals without any TTR mutations can also experience build up of normal transthyretin protein in the heart. This is known as senile systemic amyloidosis.
If you have this mutation, you may want to discuss it with your health care provider. Even if you don’t have the mutation, heart disease is still a health issue that may affect you. Making lifestyle improvements by not smoking, eating a healthy diet and exercising regularly will lead to a healthier heart that is worth celebrating.