Mutant gene identified as villain in hardening of the arteries

Dec 18, 2007

A genetic mutation expands lesions in the aorta and promotes coronary atherosclerosis, more commonly known as hardening of the arteries, according to a study by Yale School of Medicine in Cell Metabolism.

The researchers found that mice engineered without the Akt1 gene and fed a high cholesterol diet had many more signs of aortic atherosclerosis compared to their littermates. And, surprisingly, their coronary lesions were similar to humans, say the scientists.

“About 20 percent of the mice died spontaneously, perhaps due to an acute heart attack,” said William Sessa, senior author of the study, professor of pharmacology, and director of Yale’s vascular biology and therapeutics program.

Atherosclerosis is a chronic inflammatory response in arterial walls, in large part due to deposits of lipoproteins—which are plasma proteins that carry cholesterol and triglycerides. The "hardening" or "furring" of the arteries is caused by plaque formation.

In the vascular wall, Akt plays an important role in regulating the development of endothelial cells, which line the entire circulatory system, from the heart to the smallest capillary. Endothelial cells play an important role in regulating blood pressure, in blood clotting, in plaque formation in the arteries, and in formation of new blood vessels.

“The major finding of this study is that an absence of Akt1 aggravates atherosclerotic lesions, promotes coronary atherosclerosis, and may be a model of acute coronary syndromes,” Sessa said. “Specific activation of Akt1 may provide a therapeutic approach to decrease formation of lesions in the arterial wall and promote plaque stabilization to prevent an acute heart attack.”

One concern, he said, is that specific drugs are being developed to inhibit Akt in cancer patients to reduce progression of tumors, and that these drugs may also promote hardening of the arteries.

Source: Yale University

Explore further: A nucleotide change could initiate fragile X syndrome

add to favorites email to friend print save as pdf

Related Stories

Recommended for you

A nucleotide change could initiate fragile X syndrome

1 hour ago

Researchers reveal how the alteration of a single nucleotide—the basic building block of DNA—could initiate fragile X syndrome, the most common inherited form of intellectual disability. The study appears ...

Gene clues to glaucoma risk

21 hours ago

Scientists on Sunday said they had identified six genetic variants linked to glaucoma, a discovery that should help earlier diagnosis and better treatment for this often-debilitating eye disease.

Mutation disables innate immune system

Aug 29, 2014

A Ludwig Maximilian University of Munich team has shown that defects in the JAGN1 gene inhibit the function of a specific type of white blood cells, and account for a rare congenital immune deficiency that ...

Study identifies genetic change in autism-related gene

Aug 28, 2014

A new study from Bradley Hospital has identified a genetic change in a recently identified autism-associated gene, which may provide further insight into the causes of autism. The study, now published online in the Journal of ...

NIH issues finalized policy on genomic data sharing

Aug 27, 2014

The National Institutes of Health has issued a final NIH Genomic Data Sharing (GDS) policy to promote data sharing as a way to speed the translation of data into knowledge, products and procedures that improve health while ...

User comments : 0