Satisfying the Immense Energy Demands of the Body, and the Effects of Mutation within the Mitochondrial ATP6 Gene

The cells constituting the human body require immense amounts of energy to power them. Occasionally, defects occur within the powerhouse of the cell, the mitochondria, that lead to severe and often fatal untreatable diseases such as Leigh Syndrome (LS) and Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP). Both LS and NARP result from the T8993G or T8993C mutations within the ATP6 gene in the mitochondrial genome. Because mitochondrial genes are maternally inherited and the cellular effects of mutation are dosage dependent, LS and NARP syndromes have mutant thresholds of 90% to 95% and 70% to 90% respectively. Research within the last fifteen years has linked the mutation to decreased ATP synthase stability, assembly, catalysis, and oxidative stress. This review will focus on ATP6 and the T8993G mutation