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We are a worldwide social network of freethinkers, atheists, agnostics and secular humanists.

Although the relevance of this mutation is not clear yet, in terms of long term cardiovascular health, at first thought it seems like a great mutation to have, since it causes no ill effects on those who have it. A recent publication describes a mutation in the gene GALNT2, a mutation that disables the protein coded by the gene. When GALNT2 malfunctions, its interaction with apolipoprotein-IIIC is thwarted; Apo-IIC cannot inhibit an enzyme that breaks triglycerides down, and as a consequence these are cleared faster. People with the GALNT2 mutation can drink heavy cream and clear those triglycerides much more efficiently than people without the mutation. The mutation was discovered by studying a family with unusually high HDL ("good") cholesterol" and low triglycerides. Lucky them! 
With mutation, you can have your cream and eat it, too
Tuesday, December 6, 2011

 
(Image: Rodolfo Clix/STOCK.XCHNG)

People who carry a malfunctioning copy of a particular gene are especially good at clearing fat from their systems. The report in the December Cell Metabolism, a Cell Press publication, shows how the mutant gene influences metabolism in this way.

"It looks like this might be something good to have," says Jan Albert Kuivenhoven of the University Medical Center Groningen in The Netherlands, but not so fast. It remains to be seen whether the people he studied will enjoy a lower incidence of heart disease or other health benefits.

The new findings are also a win for genome-wide association studies, which have been under fire recently for their failure to explain many human diseases and traits. "It shows these studies can help us identify new biological roots," Kuivenhoven says.

Epidemiological studies have led to the notion that triglycerides and LDL cholesterol are bad for us while HDL cholesterol is good, he explained. Drugs designed to lower "bad" LDL cholesterol are effective in treating heart disease, and, following on that same logic, efforts are underway to raise HDL cholesterol.

Yet, Kuivenhoven says, "the biology is more complex than everyone wants us to believe." His goal is to work out those details.

Read the rest here

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