Article
Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA.
The Biochemical journal - 1 May 2006
Sgarbi Gianluca, Baracca Alessandra, Lenaz Giorgio, Valentino Lucia M, Carelli Valerio, Solaini Giancarlo
Abstract excerpt
Mutations in the ATP6 gene of mtDNA (mitochondrial DNA) have been shown to cause several different neurological disorders. The product of this gene is ATPase 6, an essential component of the F1F0-ATPase. In the present study we show that the function of the F1F0-ATPase is impaired in lymphocytes from ten individuals harbouring the mtDNA T8993G point mutation associated with NARP (neuropathy, ataxia and retinitis...
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