Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain

Biochemical and Biophysical Research Communications
M A Birch-MachinA Munnich

Abstract

Mitochondrial respiratory chain defects involving complex II are comparatively rare. We report the biochemical findings in two unrelated patients who both have an isolated complex II deficiency (40-50% of control values). Western blot analysis of mitochondrial fractions showed different findings between the two patients. In one patient there was a decrease in the levels of both the Fp and Ip subunits whereas in the other patient the levels of all immunoreactive complex II subunits were normal. This is the first time that an isolated deficiency of complex II activity associated with normal levels of protein subunits, using subunit specific antisera, has been described.

Citations

Feb 6, 2008·Molecular Genetics and Metabolism·Limor MinaiAgnès Rötig
Jan 24, 2006·Biochemical and Biophysical Research Communications·Kasturi L PuranamJames R Burke
Jun 27, 2006·Molecular Genetics and Metabolism·Alistair T PagnamentaShamima Rahman
Feb 5, 2000·Neurologic Clinics·G D Vladutiu
Jul 16, 2014·Environmental Management·Nicholas DowhaniukSadie J Ryan
Aug 22, 1997·Biochimica Et Biophysica Acta·P RustinA Rötig
Dec 2, 2000·Archives of Pathology & Laboratory Medicine·G D Vladutiu, R R Heffner
Nov 19, 2003·Biochemical and Biophysical Research Communications·Eriko TomitsukaKiyoshi Kita
Nov 3, 2021·Journal of Applied Toxicology : JAT·Hanne Bendiksen SkogvoldKatja Benedikte Prestø Elgstøen

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