Cells
Publication:

The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia (1990)

Author(s): B. H. Robinson;D. M. Glerum;W. Chow;R. Petrova-Benedict;R. Lightowlers;R. Capaldi

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

Abstract: 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.

Notes: 0031-3998 Journal Article

  • Short Title: The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia
  • Date: Nov
  • Journal: Pediatr Res
  • Volume: 28
  • Issue: 5
  • Pages: 549-55
  • Publication type: Article
  • Bibliographic status: Published

Keywords: Acidosis, Lactic/etiology/*metabolism Brain Diseases/etiology/metabolism Cells, Cultured Cytochrome-c Oxidase Deficiency Fibroblasts/metabolism Humans Infant Infant, Newborn Lactates/metabolism Lactic Acid Metabolism, Inborn Errors/complications/*diagnosis/metabolism Oxygen Consumption Pyruvates/metabolism Pyruvic Acid Research Support, Non-U.S. Gov't Skin/metabolism

Staff

Professor Robert Lightowlers
Director, ICaMB and Professor of Molecular Neuroscience