Background: Friedreich's ataxia is a neurodegenerative disease caused by GAA expansion in a gene coding for a mitochondrial protein; frataxin. Objective: To study the role of mitochondrial complexes dysfunctions and increased oxidative stress in the pathogenesis of FRDA and their relation to disease severity. Methods: Blood samples were obtained from 20 Friedreich's ataxia patients and 10 ages matched healthy control subjects. Mitochondrial complexes activities were calibrated spectrophotometrically and the levels of each of serum and lymphocyte glutathione were examined by reverse phase liquid chromatography. Results: There are decreased activities of all mitochondrial complexes (I, II, III & IV) in FRDA patients if compared with normal control. Also, there are decreased level of each of serum and lymphocyte glutathione in FRDA patients. Conclusions: FRDA is a mitochondrial disorder as evidenced by the decrease in activities of mitochondrial complexes in FRDA patients. There is increased oxidative stress in FRDA patients both intra- and extra cellular. [Egypt J Neurol Psychiat Neurosurg. 2011; 48(3): 229-234]
Key Words: Friedreich's ataxia, Glutathione, Mitochondrial Complexes.
Correspondence to Wael A. Fadel. Department of Neuropsychiatry, Tanta University; Egypt. Tel.: +20101476209. E-mail: Waelneuro@hotmail.com.