Families

PolG2 disease is a genetic disorder that robs the body’s cells of energy, in turn causing progressive multiple organ dysfunction and failure. Mitochondria are the power plants of the cell, converting the food we eat into the kind of energy our bodies need to function. Besides being critical, one peculiarity of these organelles is that they contain their own DNA which, to replicate, requires an enzyme (polymerase gamma) encoded in the host cell’s POLGand POLG2genes. Mutations in those genes impair efficient replication of the mitochondria DNA, causing symptoms that can start from early childhood to adulthood.

The symptoms, which can be mild to severe, most often include ophthalmoplegia, muscle weakness, epilepsy and liver failure. Because PolG disease causes such a wide range of symptoms and affects so many different organ systems, it is very difficult to diagnose and treat.