Abstract 1290 Mechanistic implication of pathogenic mutations to the N-terminal domain of Twinkle helicase

Mitochondria are cellular organelles that supply energy for the entire human body and its function. Their function is not only crucial for our daily lives but also depends on the maintenance of their semi-autonomous genome. Defects of the mitochondrial genome result in the development of human mitochondrial diseases, which range from debilitating myopathies to devastating early-onset multisystemic syndromes with short life expectancy (e.g., Alpers syndrome). Defects in mitochondrial DNA (mtDNA) maintenance have also been linked to other prominent and world-wide disorders such as Parkinson's and Alzheimer's, autism spectrum disorders, diabetes, various cancer types, and aging.