Wednesday, December 7, 2011

"Gene Mutation Allows You to Have Your Cream and Eat It, Too"

A recent study led by Jan Albert Kuivenhoven of the University Medical Center Groningen in the Netherlands aimed to learn more about the genetics affecting cholesterol and triglyceride levels in humans.  Gaining an understanding of the genetics is important because high levels of triglycerides and LDL cholesterol are associated with heart attacks and strokes.

To study the genetics of glycosylation ("the sugar modification of proteins"), Kuivenhoven "studied two families with unusually high HDL cholesterol and low triglycerides" (Medical News Today MNT).  HDL cholesterol is considered the "good" cholesterol and a low triglyceride count is ideal, thus these families had ideal "lipid profiles."  In studying the genetic sequences of the two families, Kuivenhoven found a mutation in the GALNT2 gene.  This mutation caused the gene to stop functioning.  Even more interesting, a second gene, Apo C-III, also did not function as well when it was no longer modified by GALNT2.  When functioning, Apo C-III inhibited an enzyme from breaking down triglycerides.  Thus, when the GALNT2 mutation was present, both GALNT2 and Apo C-III stopped functioning and triglycerides were broken down and cleared more quickly.

Literally, the carriers of the GALNT2 mutation were able to drink pure cream and better clear their system of triglycerides than non-carriers were able to do.  Scientists have not yet determined if the GALNT2 mutation also lowers the risk of heart diseases, but hopefully this research can eventually lead to new gene therapies to prevent heart attacks and strokes.

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