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809 members of the Old Order Amish community agreed
to go to a clinic in Lancaster in order to drink a rich milkshake
made mostly of heavy cream. Of course, that's not the only thing
they've done. Researchers then took samples of their blood,
determining how much fat was churning through their bloodstreams.
Most of study participants had their levels of triglycerides rose
steadily for three to four hours and then declined. Triglycerides is
a common form of fat in the blood. Amazing as it seems, 5 percent of
them had an extraordinary reaction: their triglyceride levels started
out low and hardly budged.
It seems that the individuals who barely responded
have a mutation that disables one of their two copies of a gene
called apoC-III. The gene codes a protein, APOC3, which normally
slows the breakdown of triglycerides. Of course, with this mutation,
people break down triglycerides very quickly. Furthermore, the test
subjects also had low levels of LDL cholesterol, which at high levels
increases heart disease risk. They also have high levels of HDL
cholesterol, which decreases the risk of heart disease and they
appear to have arteries relatively clear of plaque.
In order to find the gene mutation, researchers led
by Toni Pollin, an assistant professor of medicine at the University
of Maryland School of Medicine scanned the entire genomes of their
study subjects, looking for genetic regions that were linked to
levels of blood triglycerides. They ultimately got to a region that
contained the apoC-III gene. After sequencing it, they found that the
mutation destroyed its function. Scientists suspected that apoC-III
might have such a role, but it's now clear for all of them.
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