Gene Mutation Behind Cholesterol Drug Side Effect: Study

A genetic mutation may be responsible for the muscle pain or weakness experienced by some patients taking statin – the cholesterol-lowering drugs – British researchers have learnt.

Statins, member of the hypolipidemic drugs, are commonly used to lower cholesterol levels in people with or at risk of cardiovascular disease. While some patients on statin therapy report myopathy - a neuromuscular disease that results in muscular weakness, the disorder can be mild and reversible, in serious form of muscle damage, the disease can affect the kidney and occasionally lead to death.

The new discovery will aid physicians to screen heart patients to find out who is at greatest risk of experiencing myopathy and thus possibly avoid the most serious side effect of cholesterol-lowering statin drugs, researchers hope.

With the help of the new technology, researchers led by Rory Collins of the University of Oxford, scanned about 300,000 spots across the human genetic to gauge the prevalence of the a variation in the DNA code of a gene called SLC01B1variant - 85 with myopathy had it, compared a similar group of 90 people who did not.

The study subjects who had two normal genesdefine reportedly had a 0.6 percent risk of developing the disorder. However, for patients who had a set of gene – one normal and one abnormal - the risk of developing muscle weakness increased to 3 percent.

The risk further climbed to 18 percent for patients who had both genes abnormal, researchers found.

"Even when the variant version is present, the risk of myopathy depends on how big a dose of a statin is prescribed," Collins emphasized.

"Identifying people who don't have this variant will allow the doctor and patient to be assured that they are much less likely to get myopathy with the high dose or with statins combined with other drugs. I think it can be used to get greater efficacy for particular patients while improving safety," Collins remarked while reporting the discovery in the July 24 online issue of the New England Journal of Medicine.