syndrome is an inherited cancer disorder caused by mutations in the
tumor suppressing protein p53. Individuals with Li-Fraumeni syndrome are at an increased risk for a
number of cancers, including breast and bone cancer.
Mutations in the protein p53 have also been linked to increased mitochondrial metabolism. It is not clear whether targeting these metabolic changes can effectively reduce the risk of cancer associated with p53 mutations.
In the JCI, research led by Paul Hwang at the National Heart, Lung, and Blood Institute discovered that treatment with the commonly-prescribed diabetes medication metformin treatment blocked increases in mitochondrial metabolism in a mouse model of Li-Fraumeni syndrome, leading to a lower rate of tumor formation and increased survival time.
The finding that this FDA-approved drug can ameliorate abnormal mitochondrial metabolism suggests that it may be a potential strategy for tumor prevention in Li-Fraumeni syndrome.