An A8296G mutation in the MT-TK gene of a patient with epilepsy - a disease-causing mutation or rare polymorphism?

Mitochondrial DNA (mtDNA) mutations are an important cause of human diseases. mtDNA could be considered a candidate modifying factor in neurodegenerative disorders. A homoplasmic A8296G mutation was detected in a 24-year-old patient with idiopathic generalized epilepsy. The A8296G mutation in the mitochondrial DNA MT-TK gene has been associated with severe mitochondrial diseases. The pathogenicity of this mutation or its association with a specific disease is unclear. This mutation has already been reported exclusively as well as together with other mutations during trials of mtDNA. As in this case, the mutation was homoplasmic and there were no clinical findings in other family members. We suggest that this mutation is a rare polymorphism or may be a pathogenic mutation in combination with other mutations outside of the MT-TK gene.