Genetic mutations can cause or prevent disease and scientists at the University of Maryland recently came across an interesting case of the latter.
The scientists asked folks from an Amish community near Lancaster, Pennsylvania to swill down a creamy milkshake and then tracked what happened to fat levels in their blood.
In nearly all participants, triglyceride levels rose for several hours then slowly declined to baseline as would be expected. But in about 5%, the levels started out low and jumped no more than a smidge.
Tori Pollin and colleagues traced the favorable phenotype back to a gene mutation that had already received the inauspicious name apoC-III. The gene codes for APOC3, a protein that normally slows down triglyceride metabolism.
According to Pollin’s report in Science, the cohort with the gene mutation also had higher levels of HDL (good)-cholesterol and lower levels of LDL (bad) –cholesterol. And they had fewer coronary artery calcifications on CT scanning. In short, the mutation was cardio-protective.
The isolated nature of the Amish population enabled the scientists to trace the apoC-III mutation to a man born more than 200 years ago.
In commenting on the study, Daniel Rader told the New York Times, “this is among the strongest human evidence we have that APOC3 is quote, unquote, bad.”
We love it when University of Pennsylvania cardiac researchers talk like that. He added, “if you had a drug to turn off the gene to prevent as much APOC3 being made, this study suggests that that would be beneficial to do.”
We’re on it.