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article imageMysterious heart disease gene found by Canadian science

By Tim Sandle     Apr 28, 2014 in Science
Scientists have detected a mysterious gene that influences cardiovascular health. After five years, researchers now know how one genetic variant works and how it contributes to the development of heart.
The gene is called gene called SPG7 and it is a potential contributor to coronary artery disease. Coronary artery disease is the most common type of heart disease and cause of heart attacks. The disease is caused by plaque building up along the inner walls of the arteries of the heart, which narrows the arteries and reduces blood flow to the heart.
The gene contains instructions for producing a protein which resides in mitochondria (the small power plants of cells that produce the energy cells need to function). SPG7's role is to help break down and recycle other damaged proteins within the mitochondria.
Normally, SPG7 requires a partner protein to activate itself and start this breakdown process. However, it has now been found that in people who carry the genetic variant, SPG7 can activate itself in a way that leads to the increased production of free radicals and more rapid cell division. These factors contribute to inflammation and atherosclerosis.
From this finding, researchers hope to begin studies to examine how people who carry the mutation can be best cared for.
The study was carried out at the University of Ottawa Heart Institute. The findings have been published in the journal Cell Reports, in a paper titled “Structure, Mechanism, and Specificity of a Eukaryal tRNA Restriction Enzyme Involved in Self-Nonself Discrimination.”
More about Gene, Heart disease, Genetics, Mutation
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