Family’s metabolic syndrome linked to gene mutation

From the Hartford Courant

For people with metabolic syndrome, there is no shortage of the warning signs for heart disease, stroke and diabetes.

Now scientists at Yale University Medical School say they have found a molecular common denominator that may help explain why conditions such as obesity, insulin resistance, high blood pressure, high levels of cholesterol and triglycerides tend to cluster in some people.

A genetic analysis of four generations of a single family with a high incidence of metabolic syndrome found that family members suffering from the syndrome shared a single genetic mutation affecting the mitochondria -- the organelles in our cells that serve as a sort of cellular power pack, according to research published in the Oct. 21 issue of the journal Science.

“This finding raises the possibility that all features of the metabolic syndrome may be attributable to altered mitochondrial function,” said Richard T. Lifton, chairman of genetics at Yale and a Howard Hughes Medical Institute investigator.


Mitochondria are passed down only through the mother’s line, and researchers found a disproportionate share of metabolic syndrome cases in the family’s maternal lineage. However, all people with the mutation did not suffer all the same symptoms of metabolic syndrome.