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Researchers Discover Gene Mutations Thought to Cause a Common Heart Condition

Reuters reports a new study published in the Science Translational Medicine journal which has successfully identified gene mutations that cause dilated cardiomyopathy (DCM). The study team sequenced the titin gene of 5,267 volunteers, both healthy and with DCM, and then analyzed titin levels in samples of heart tissue. They found that the mutations which cause DCM are found at the far end of the genetic sequence, while mutations in healthy people are located in parts of the gene not included in the final protein, thereby allowing titin to remain active. These findings can help researchers develop treatments to prevent or treat heart disease caused by titin mutations.

Read the article published by Reuters.

Read the study published in the Science Translational Medicine journal.