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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia.

Cultured skin fibroblasts from patients with lacticacidemia were incubated with glucose for 1 h and the lactate and pyruvate production measured. Those patients with increased lactate to pyruvate ratios were further analyzed for the cause of the abnormal redox state. Two categories of patients are described. The first contains patients with either severe or partial cytochrome oxidase deficiency; this group can be broken down further into patients with Leigh's disease, Kearns-Sayre syndrome, and liver-specific cytochrome oxidase deficiency. In this group, the rise in lactate to pyruvate ratio roughly correlated with the severity of the defect. The second patient category had defects located in complex I of the mitochondrial respiratory chain. This is easily demonstrated in the most severely affected patients with the fatal infantile form of the disease. Patients with severe defects in either complex I or cytochrome oxidase had complexes that were only partially assembled. Patients with mitochondrial encephalopathy with lactic acidosis and stroke-like episodes demonstrated only minor changes in redox state and in the behavior of the mitochondrial respiratory chain.[1]


  1. The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia. Robinson, B.H., Glerum, D.M., Chow, W., Petrova-Benedict, R., Lightowlers, R., Capaldi, R. Pediatr. Res. (1990) [Pubmed]
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