Rare genetic mutation may entail higher risk of heart disease. Researchers reported on Thursday that cholesterol, which is considered good, does not always live up to its reputation. In contrast, it can raise the risk of heart problems in some people.
Generally, cholesterol with high density lipoprotein (HDL) is believed to link to decreasing heart risks for it usually lowers the artery-clogging effects of the low density (LDL) form.
However, scientists reveal that some people have a rare genetic mutation, which results in higher levels of high density lipoprotein (HDL). Paradoxically, these people tend to face greater heart risk. More specifically, people with the defective SCARB1 gene would have higher level of HDL, and are also 80% more likely to get involved in heart disease than those who do not have that mutation.
According to Daniel Rader, a lead teacher from the University of Pennsylvania, their results point out the truth that increasing HDL can lead to the rising risk of getting involved in heart diseases. Though the first time the mutation demonstrates increases HDL, it provokes higher risk of heart problems.
It has been found that people who have rare genetic mutation had experienced bigger risk of coronary heart disease. That level of risk is equivalent to the risk resulting from smoking.
Normally, HDL plays as the helper to ferry cholesterol from the whole body to the liver, where it will be eliminated. However, as Rader and his team has found, when it comes to people who have a faulty version of genes, the process is somehow disrupted. In other words, high level of HDL has failed to do its task. That genetic mutation seems to appear in people from Ashkenazi Jewish descent.
Thanks to these results, now scientists can explain the reason why clinic trials of their drugs, which is to foster HDL, have failed to give expected outcomes.
Within 10 years, scientists have been confounded by HDL particles. Experimental drugs knowned as CETP inhibitors from Pfizer, Roche and Eli Lilly that increase HDL cholesterol have flopped in clinical trials, making Merck’s anacetrapib the one and only successful trial so far.
According to Peter Weissberg, medical director at the British Heart Foundation, who has always supported the study, that new research has shed light on a major puzzle, and might pave the way to the newborn of medical avenues in the long-run.
He indicated that those findings had opened up brighter way for further study about SCARB1, helping to find out new treatments to decrease the risk of heart attack in the future.