Abstract
Mutations in the human gene C10orf2, which encodes for the mitochondrial DNA (mtDNA) helicase, are associated with several cases of mitochondrial and neurodegenerative diseases, such as Progressive External Ophthalmoplegia (PEO), Perrault Syndrome, Infantile-Onset Spinocerebellar Ataxia (IOSCA), among others. The mtDNA helicase, also known as Twinkle, is an enzyme capable of utilizing ATP…