Deficiency of the ATP Synthase Caused by nt 8993 Mutation and its Impact on Human Health

The ATP synthase in mitochondria was responsible for the synthesis of to provide chemical energy cell achieve metabolism. point mutation at mitochondrial DNA nt 8993(T>C and T>G) disrupted normal cellular mechanism synthase, causing a deficiency production synthesis. 8993 causes replacement leucine amino acid with an arginine(aL156R), changing sequence ATP6 gene, which inefficiency c-subunit synthase. potential effect can be expressed Leigh syndrome, exhibited neurologic weakness, ataxia, retinitis pigmentosa. In this review, we will go over structure mutation, mechanisms eliminate mutation.