Good Garda Genes?

May 23, 2005

Last night, I watched a show on KQED-HD, our local PBS affiliate (broadcast in HD). The program was titled Cure and it detailed the search to find a cure for heart disease.

Initially, it described that LDL carried cholesterol to various parts of the body. High levels of LDL can cause too much cholesterol to be distributed through the body. This leads to deposits called plaques being formed. Plaques can break up causing clots which can be carried through the arteries up to the brain causing a stroke. Also, plaques can block blood flow to the heart causing stress on the heart itself. This can lead to heart attacks.

Countering LDL is a second carrier called HDL. HDL picks up cholesterol from cells throughout the body and delivers it to the liver for disposal. Low levels of HDL is a bad thing, since it won't be able to carry away enough cholesterol to prevent the buildup of plaques.

What was very interesting to me was the discovery of a man in Italy who had very low HDL levels, but showed no signs of heart disease. It was discovered that his isolated village on the western banks of Lago di Garda, Italy's largest lake. The village, Limone sul Garda, is bounded by cliff faces around it's side with the lake directly in front. Because of this, the population was isolated for generations.

When tested, 42 members of the village were found to have a gene that suppressed HDL production, but at the same time made it much more efficient. It was a super-HDL. Checking headstones at the village cemetery, it was noted that people often lived to be 100 years old. From studying 500 years worth of birth and marriage records it was found that the original carrier of this gene was a young man who crossed the mountains down into Limone and fell in love with a local girl.

The program continued to describe the work done in identifying and reproducing the specific agent which amplified the power of HDL. This is a protein called Proteina A1 Milano (aka Apolipoproteina A). The protein was synthesized by biochemist (and UConn alum.) Dr. Roger Newton at Esperion Therapeutics. Limited tests showed amazing results with plaques reduced in size by 33% after short term initial therapy (the drug has been dubbed "arterial drano"). In 2003, Esperion was sold to Pfizer for 1.3 billion dollars with the hopes that the nearly limitless resources of the giant pharmaceutical company could be put to use in finding a method for mass producing the compound.

Anyway, my father's parents are both from a village named Tignale which overlooks Lago di Garda. It's higher up the mountain cliffs from the lake (alt. 400m) but a short drive from Limone once you're at the base. I wonder if I have this gene. I suppose it's possible. I do have the "wander far and wide and fall in love" gene.

tags:health, lago di garda, science and technology

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