Diagnosis of complex I deficiency in patients with lactic acidemia using skin fibroblast cultures

Biochemical and Molecular Medicine
S PitkanenB H Robinson

Abstract

The requirement for a rapid and easy method of preparing mitochondrial fractions from cultured skin fibroblasts led us to compare the results obtained from such a preparation with the more traditional methods of cellular fractionation. Values for NADH-cytochrome c reductase (rotenone sensitive) were compared for a series of three controls and nine patients with complex I (NADH-coenzyme Q reductase deficiency). Values obtained for deficient cell lines varied from 19 to 64% of the control values for the long mitochondrial preparation method and from 34 to 70% of control for the rapid preparation. Mean values were statistically significantly different from the lowest control cell line (P < 0.01) in all cases. The specific activity on the basis of activity per milligram of mitochondrial protein and of activity per unit of citrate synthase activity was lower in the rapid preparation of mitochondria by some 41%, indicating a lesser degree of mitochondrial purification. However, the overall result showed that this type of rapid preparation, which uses four 9-cm petri dishes of cultured cells, can be used to diagnose mitochondrial complex I deficiency. This method will find general use in the measurement of either mitochondrial enzymes...Continue Reading

Citations

Sep 12, 2000·Free Radical Biology & Medicine·S RahaB H Robinson
Dec 26, 2012·Molecular Genetics and Metabolism·Komudi SiriwardenaJessie M Cameron
Oct 6, 2010·Mitochondrion·Jessie M CameronBrian H Robinson
Jul 20, 2010·Biochemical and Biophysical Research Communications·Mary C MajBrian H Robinson
Nov 11, 2006·Molecular Genetics and Metabolism·Jessie M CameronBrian H Robinson
May 27, 2015·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Jessie M CameronAndreas Schulze
Sep 24, 2004·American Journal of Medical Genetics. Part a·Jessie M CameronBrian H Robinson
Jun 14, 2006·American Journal of Medical Genetics. Part a·Jessie M CameronBrian H Robinson
Jul 1, 2008·Expert Opinion on Medical Diagnostics·Gavin HudsonPatrick F Chinnery
Jul 2, 1999·British Journal of Cancer·K KahlosV L Kinnula
Jan 5, 2002·Journal of Inherited Metabolic Disease·A SeydaB H Robinson

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