title: Oxidative stress is induced in female carriers of X-linked adrenoleukodystrophy.
abstract: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease biochemically characterized by the accumulation of very long chain fatty acids (VLCFA), particularly hexacosanoic (C26:0) and tetracosanoic acids (C24:0) in different tissues and in biological fluids and clinically characterized by central and peripheral demyelination and adrenal insufficiency. A considerable number of heterozygotes (HTZ) for X-ALD develop neurological symptoms like spinal cord involvement resembling milder forms of adrenomyeloneuropathy. However, the mechanisms of brain damage in hemizygotes and heterozygotes X-ALD individuals are poorly understood. Considering that oxidative stress was involved in various neurodegenerative disorders and that in a previous study we showed evidence that oxidative stress is probably involved in the pathophysiology of X-ALD symptomatic patients, in the present study we evaluated various oxidative stress parameters, namely thiobarbituric acid-reactive substances (TBA-RS), total antioxidant status (TAS) and total antioxidant reactivity (TAR) in plasma of HTZ individuals for X-ALD. It was observed that female carriers present a significant increase of TBA-RS measurement, indicating a stimulation of lipid peroxidation, as well as a decrease of TAR, reflecting a deficient capacity to rapidly handle an increase of reactive species. These results indicate that oxidative stress is involved in the pathophysiology of heterozygotes for X-ALD.
authors.affiliation: Serviço de Genética Médica, HCPA, Porto Alegre, RS, Brazil. marion_deon@yahoo.com.br
authors.forename: Marion
authors.initials: M
authors.lastname: Deon
authors.forename: Angela
authors.initials: A
authors.lastname: Sitta
authors.forename: Alethea G
authors.initials: AG
authors.lastname: Barschak
authors.forename: Daniela M
authors.initials: DM
authors.lastname: Coelho
authors.forename: Thatiana
authors.initials: T
authors.lastname: Terroso
authors.forename: Graziela O
authors.initials: GO
authors.lastname: Schmitt
authors.forename: Hector Y C
authors.initials: HY
authors.lastname: Wanderley
authors.forename: Laura B
authors.initials: LB
authors.lastname: Jardim
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
authors.forename: Moacir
authors.initials: M
authors.lastname: Wajner
authors.forename: Carmen R
authors.initials: CR
authors.lastname: Vargas
mesh_terms: D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000378:metabolism*; D000975:Antioxidants / Q000378:metabolism; D005215:Fasting / Q000378:metabolism; D005260:Female; D005609:Free Radicals / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D018384:Oxidative Stress / Q000502:physiology*; D011506:Proteins / Q000378:metabolism; D017392:Thiobarbituric Acid Reactive Substances / Q000378:metabolism
chemical_list: D000975:Antioxidants; D005609:Free Radicals; D011506:Proteins; D017392:Thiobarbituric Acid Reactive Substances