Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia

Annals of Neurology
R W TaylorD M Turnbull

Abstract

Defects of the mitochondrial respiratory chain are increasingly being recognized as an important cause of neurological disease in humans. In many of these patients, the biochemical defect results from an abnormality of the mitochondrial genome. Respiratory chain defects involving complex II, which is entirely encoded by the nuclear genome, are comparatively rare. We report the clinical and biochemical findings in 2 elderly sisters who presented with late-onset neurodegenerative disease. In both patients, a partial deficiency of complex II (approximately 50% of control values) was shown to be present in mitochondria from muscle and platelets. The enzyme defect was not expressed in cultured skin fibroblasts or immortalized lymphocytes. There was an overexpression of the 70-kd flavoprotein subunit in muscle mitochondria from both patients, although we showed that this subunit is present in normal amounts in mitochondrial membranes. Our studies highlight the diversity of the clinical presentation of respiratory chain disease and that complex II deficiency should enter the differential diagnosis of certain patients with late-onset neurodegenerative disease.

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Citations

May 5, 2010·Journal of Inherited Metabolic Disease·Richard J T Rodenburg
Mar 17, 2004·Neuromuscular Disorders : NMD·Robert W TaylorDouglass M Turnbull
Feb 19, 2002·Neurochemistry International·Valerio CarelliAlfredo A Sadun
Feb 5, 2000·Neurologic Clinics·G D Vladutiu
Jun 17, 2010·European Journal of Human Genetics : EJHG·Aviva LevitasRuti Parvari
Dec 20, 2005·Journal of Neurology, Neurosurgery, and Psychiatry·R HorváthM Jaksch
Sep 22, 2012·Orphanet Journal of Rare Diseases·Andreas OhlenbuschKnut Brockmann
May 2, 2014·European Journal of Human Genetics : EJHG·G Herma RenkemaRichard J T Rodenburg
Nov 19, 2003·Biochemical and Biophysical Research Communications·Eriko TomitsukaKiyoshi Kita
May 6, 2004·Annals of the New York Academy of Sciences·Salvatore DimauroMichelangelo Mancuso
Jun 27, 2006·Molecular Genetics and Metabolism·Alistair T PagnamentaShamima Rahman
Jun 2, 2006·Brain & Development·Marianna BugianiGraziella Uziel
Sep 11, 2012·Molecular and Cellular Neurosciences·Alessandra MarescaValerio Carelli
Sep 24, 2008·Handbook of Clinical Neurology·R W TaylorD M Turnbull
Sep 30, 2016·American Journal of Medical Genetics. Part a·Carolina CourageAndré Schaller
Oct 22, 2008·Methods : a Companion to Methods in Enzymology·Kurenai Tanji, Eduardo Bonilla
Jan 25, 2008·Journal of Neuroscience Research·Kazuya ToriumiShoichi Ishiura
Nov 22, 2014·Journal of Clinical Neuromuscular Disease·Kothari SonamNarayanappa Gayathri
Jan 17, 2013·American Journal of Medical Genetics. Part a·Shailly Jain-GhaiJulian Raiman
Mar 25, 2000·Clinical and Experimental Dermatology·M A Birch-Machin
Dec 2, 2000·Archives of Pathology & Laboratory Medicine·G D Vladutiu, R R Heffner

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