X-linked adrenoleukodystrophy (X-ALD), caused by a mutation in ABCD1, leads to an accumulation of long-chain fatty acids. However, the mechanism by which this accumulation causes disease is not yet understood. One of the potential factors thought to contribute to disease is oxidative stress and subsequent free-radical damage.
Petrillo et al (Molecular Genetics and Metabolism, 109 (4): 366–370) offers further evidence for oxidative stress in X-ALD. They analyzed glutathione homeostasis in lymphocytes of a cohort of patients with X-ALD, and found decreased total and reduced glutathione and elevated oxidized glutathione forms. Additionally, they identified decreased of plasma thiols and the high level of carbonyls, another marker of oxidative stress.
For me, results such as these bring up the question of whether or not patients with X-ALD would benefit from therapies aimed at reducing oxidative stress.
Hilary Vernon, MD PhD