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Biochemical Lights in a Blurry Scenario

Arch Neurol. 2005;62:711-712.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

Mitochondrial encephalomyopathies encompass a diverse group of diseases that are caused by defects of respiratory chain enzymes (unimaginatively named complexes I-V). This terminal biochemical pathway embedded in the mitochondrial inner membrane couples electron transport and transmembrane proton pumping to generate a chemo-osmotic gradient that is used to produce adenosine triphosphate (ATP) via oxidative phosphorylation. Among the myriad mitochondrial encephalomyopathies, Leber hereditary optic neuropathy (LHON) is the most common. As an added historical distinction, LHON was the first human disease to be associated with a mitochondrial DNA (mtDNA) point mutation, a guanine-to-adenine substitution at nucleotide 11778 in the ND4 gene (11778/ND4) of complex I.^1-2 Although 16 years have passed since the identification of the 11778/ND4 transition and LHON has been associated with mutations in other mtDNA ND genes, we still do not understand the pathogenesis of this enigmatic disease. In particular, the biochemical effects of LHON mutations have . . . [Full Text of this Article]

AUTHOR INFORMATION

Michio Hirano, MD; Salvatore DiMauro, MD

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