Magazine article Science News

Genetics May Underlie Some Artery Ruptures

Magazine article Science News

Genetics May Underlie Some Artery Ruptures

Article excerpt

Genetics may underlie some artery ruptures

Genetic tests of a Texas family with a marked vulnerability to aortic aneurysms--silent and sometimes fatal weakenings in the walls of the main artery leading from the heart--show that many members inherited a faulty gene, report researchers at Thomas Jefferson University in Philadelphia. "Our study proves for the first time that there is a genetic cause for aortic aneurysms," asserts study leader Darwin J. Prockop.

He and his colleagues have also developed a simple saliva test that offers hope for identifying others who carry aneurysm-associated genetic defects, perhaps in time to prevent a catastrophic blowout of the aorta wall.

The researchers initially focused their investigation on an apparently healthy 37-year-old woman, Michele Hegler, whose mother, aunt and 15-year-old cousing had died of aortic aneurysms. While analyzing DNA from Hegler's skin cells, the team homed in on the gene coding for collagen III--the tough, fibrous protein that gives aortic walls their strength. The analysis, described in the November JOURNAL OF CLINICAL INVESTICATION, revealed that the genetic instructions for producing collagen III contained a mutation resulting in the substitution of just one improper amino acid.

Prockop and his co-workers then examined aortic tissues that had been preserved after the death of Hegler's mother and aunt. DNA analysis confirmed that these contained the same flawed collage III gene. …

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