Gene a Pain for Statin Users

A genetic variant may help explain why some patients experience muscle discomfort and dysfunction while taking the cholesterol-lowering medications.

Written byKate Yandell
| 3 min read

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FLICKR, CAN HUsing a novel approach, researchers have discovered a genetic variant that may contribute to the muscle pain and weakness experienced by some statin users, according to a study published in Nature today (August 28). Under statin-treated conditions, the variant affects expression of the gene for glycine amidinotransferase (GATM), which controls the synthesis rate of creatine, a molecule muscles use for energy.

“The authors used a really unique approach for trying to understand why some people might respond differently [to statins],” said Deepak Voora, a physician-scientist studying pharmacogenetics at Duke University, who was not involved in the research. “That approach will have implications for studying other drugs.”

To find relevant genetic variants, the researchers collected lymphoblastoid cells from patients participating in a trial testing simvastatin, also known as Zocor. Statins generally act in the liver, but the researchers noted that lymphoblastoids—immortalized immune cells that are easily generated from blood samples—were a reasonable proxy for liver cells’ response to statins.

“The notion of using lymphoblastoid cell lines to understand drug effects is very interesting,” said Dan Roden, a pharmacogeneticist at Vanderbilt University who was not involved in the ...

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