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From Mutation to Drug

Researchers hope that the serendipitous discovery of a woman with extremely low triglyceride levels will lead to drugs to treat heart disease patients, the New York Times reports.

According to the Times, Anna Feurer attended a corporate health fair in 1994, and a blood test taken as part of the event revealed that she had unusually low levels of triglycerides as well as low low-density lipoprotein and high-density lipoprotein cholesterol levels. She and her family were then recruited into a research study and, eventually, researchers at Massachusetts General Hospital found that Feurer harbored mutations in each copy of her ANGPTL3 gene, which is involved in triglyceride metabolism. Three of her siblings also carried both and also had very low triglyceride levels, while three other siblings had one mutated copy and had low, though not to the same degree, triglyceride levels. Three other siblings had normal versions of the gene and normal triglyceride levels, the Times adds.

The siblings with two affected genes also had no coronary artery plaque.

In the New England Journal of Medicine this week, a pair of papers describes how loss-of-function mutations in ANGPTL3 are linked to decreased triglyceride, LDL cholesterol, and HDL cholesterol levels and a decreased risk of heart disease as well as how antisense oligonucleotides targeting ANGPTL3 mRNA leads to the same effect.

As the Times notes, Regeneron and Ionis Pharmaceuticals are testing drugs based on this, but it adds that how effective such drugs will be in preventing heart attacks remains to be seen.

The Scan

RNA Editing in Octopuses Seems to Help Acclimation to Shifts in Water Temperature

A paper in Cell reports that octopuses use RNA editing to help them adjust to different water temperatures.

Topical Compound to Block EGFR Inhibitors May Ease Skin Toxicities, Study Finds

A topical treatment described in Science Translational Medicine may limit skin toxicities seen with EGFR inhibitor therapy.

Dozen Genetic Loci Linked to Preeclampsia Risk in New GWAS

An analysis of genome-wide association study data in JAMA Cardiology finds genetic loci linked to preeclampsia that have ties to blood pressure.

Cancer Survival Linked to Mutational Burden in Pan-Cancer Analysis

A pan-cancer paper appearing in JCO Precision Oncology suggests tumor mutation patterns provide clues for predicting cancer survival that are independent of other prognostic factors.