Mitochondrial defects in Lowe's oculocerebrorenal syndrome.
We performed biochemical studies on isolated mitochondria from a muscle biopsy specimen in a patient with Lowe's syndrome. Respiratory controls of mitochondrial preparations with substrates reducing nicotinamide adenine dinucleotide and with a flavoprotein-linked substrate were markedly diminished, but the oxygen consumption was normal with ascorbate and tetramethylphenylenediamine as substrates, which suggested a defect in electron transport prior to the cytochromes. The organelles also showed decreased adenosine diphosphate phosphorylate-oxygen ratio, indicating a partial uncoupling. These findings suggest that Lowe's syndrome could be considered a mitochondrial disease.
D000244:Adenosine Diphosphate / Q000378:metabolism; D002675:Child, Preschool; D004734:Energy Metabolism; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000378:metabolism*; D009800:Oculocerebrorenal Syndrome / Q000378:metabolism*; D010100:Oxygen / Q000378:metabolism; D015499:Renal Tubular Transport, Inborn Errors / Q000378:metabolism*; D012119:Respiration
D000244:Adenosine Diphosphate; D010100:Oxygen