A mutation in a gene that keeps arteries elastic seems to be involved in early-onset heart disease.

Researchers in The Netherlands have been looking at the frequency of a mutated version of a gene called ABCC6 in people who suffered a heart attack at an early age. We already know that the mutated gene is involved in a rare disease called pseudoxanthoma elasticum, where elastic fibres in connective tissue break down.

The researchers found that carrying even one copy of the mutation is linked to having a heart attack before age 50. They studied a group of 441 such patients, comparing them to 1,057 people without heart problems. They found the frequency of the ABCC6 mutation was four times higher in the heart attack group, when compared to the general population. The work could lead to a genetic screening test that could identify those most at risk of early-onset heart disease.

Source

Circulation August 2002