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Report shows how mutant gene influences lipid metabolism

May 11, 2017

The new sequencing effort identified a mutation in GALNT2. When GALNT2 mutation carriers drank pure cream, they were better able to clear those triglycerides than noncarriers were, the report shows.

It appears that comes from a change in the interaction between the mutant enzyme and another factor known as apolipoprotein C-III. Apo C-III inhibits an enzyme that breaks triglycerides down, and it does that especially well when modified by GALNT2. When GALNT2 loses its function, Apo C-III doesn't do its job as well, either, and triglycerides are cleared more rapidly as a result.

The findings reveal an unexpected and exciting link between lipid metabolism and the sugar modification of proteins (a process known as glycosylation).

"Thirty to fifty percent of proteins are glycosylated," he says. "Nature puts a lot of effort into this, and its physiological relevance is hardly known."

Source: Cell Press

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