Rare Diseases Symptoms Automatic Extraction

Oxidative stress is induced in female carriers of X-linked adrenoleukodystrophy.


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.