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The Heart Race

About five years ago, researchers discovered a mutation in PCSK9 that seemed to positively affect heart health, says Bloomberg's Robert Langreth. Normally, the gene encodes a protein that enables the body to accumulate LDL cholesterol. But the mutation — which occurs in an estimated 3 percent of the population — allows the body to get rid of more cholesterol, dropping a carrier's risk of heart attack by as much as 88 percent, Langreth says. And now, drug companies are vying to create a drug that taps into this PCSK9-variant potential. "More than a half-dozen companies led by Amgen, Sanofi, and Pfizer are developing a new family of treatments based on the science," Langreth says. "Amgen and Sanofi partner Regeneron Pharmaceuticals will present data from early human trials at the American Heart Association meeting next week." Amgen is testing its drug in patients with high cholesterol who cannot tolerate standard lipid-lowering drugs. In April, Amgen said a single dose of its compound lowered cholesterol in test patients by as much as 70 percent. Other companies like Merck and Isis Pharmaceuticals are working on anti-PCSK9 antibodies, Langreth adds.

The Scan

LINE-1 Linked to Premature Aging Conditions

Researchers report in Science Translational Medicine that the accumulation of LINE-1 RNA contributes to premature aging conditions and that symptoms can be improved by targeting them.

Team Presents Cattle Genotype-Tissue Expression Atlas

Using RNA sequences representing thousands of cattle samples, researchers looked at relationships between cattle genotype and tissue expression in Nature Genetics.

Researchers Map Recombination in Khoe-San Population

With whole-genome sequences for dozens of individuals from the Nama population, researchers saw in Genome Biology fine-scale recombination patterns that clustered outside of other populations.

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.