Mitochondrial defects in Lowe's oculocerebrorenal syndrome
J. M. Gobernado, M. Lousa, A. Gimeno and M. Gonsalvez
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.