The GLP is committed to full transparency. Download and review our 2019 Annual Report

Rare gene mutation more dangerous to the heart than previously thought

| | January 10, 2017
anatomy male coherence crop
This article or excerpt is included in the GLP’s daily curated selection of ideologically diverse news, opinion and analysis of biotechnology innovation.

Around 1% of the population carries a genetic mutation which can have a strong impact on their heart health.

It all comes down to a special protein in the body called titin…[A] mutation in the TTN gene…can cause the heart to fail because…it can’t pump blood around the body efficiently.

It was previously thought that the titin mutation would not affect people carrying the mutated gene, so long as it wasn’t expressed. However, new research from The National Heart Center Singapore and others has shown that hearts of all 1% of people with the mutation could be at risk of heart failure, not just those in whom the gene is expressed.

“We could directly show the impact of the mutations on the titin protein production which has an impact on the heart,” Dr. Sebastian Schäfer, a Genetics professor at the National Heart Centre Singapore, said in a statement. “Even though the heart appears healthy initially, it reacts to this genetic stress on many levels such as changes to its gene expression and energy source.

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post: There’s a genetic mutation which means 35 million people have a heart that is at risk of failing

News on human & agricultural genetics and biotechnology delivered to your inbox.
Optional. Mail on special occasions.

Send this to a friend