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Researcher helps
identify new gene influencing blood lipid levels
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2002
- A research team including a Medical College scientist has discovered
a powerful new gene playing an important role in the regulation
of plasma triglyceride levels in humans and mice. Their findings
were published in the Oct. 5 issue of Science.
- Elevated plasma triglycerides, a major fat component in the
blood, are a significant risk factor in coronary artery disease,
explained Michael Olivier, PhD, Assistant Professor of Physiology
at the Human and Molecular Genetics Center and coauthor of the
study.
- The researchers report that genetically engineered knockout
mice - which were missing the apolipoprotein (apo) AV gene - had
a 400-percent increase in plasma triglyceride levels. Conversely,
their transgenic mice - those engineered to over-express the human
apo AV gene - had a 40 percent reduction in plasma triglyceride
levels. "Plasma lipid levels are a major determinant of cardiovascular
disease susceptibility," said Dr. Olivier. "Since apolipoprotein
genes have been shown to play a major role in determining an organism's
lipid profile - and consequently its susceptibility to coronary
artery disease - discovery of the apo AV gene now offers a well-defined
target for development of new interventions."
- The team, led by Len A. Pennacchio, PhD, a postdoctoral research
fellow at the Lawrence Berkeley National Laboratory in Berkeley,
CA, identified the human apo AV gene, located near a gene cluster
known to influence blood lipid levels, by comparing the human
sequence with the sequence from the mouse. Furthermore, they were
able to identify sequence variations (single nucleotide polymorphisms,
or SNPs) in the human apo AV gene. In testing over 1,000 individuals
from two independent human studies looking at blood lipid levels,
the group was able to show that individuals who have a rare form
of these variants have significantly higher plasma triglyceride
levels than individuals with the more common form.
- These variants could be used to identify labratories genetically
at risk to develop higher plasma triglyceride levels. However,
at this point, the exact function of these variants and their
association with actual development of coronary artery disease
is unknown, according to Dr. Olivier. "It will certainly be our
major effort now to try and understand how the different forms
of this new gene affect triglyceride levels, and how we can use
this information to diagnose patients potentially at risk for
coronary artery disease," he said.
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