Glutathione imbalance in patients suffering from adrenoleukodystrophy



Written on Wednesday 16 July 2014

X-linked adrenoleukodystrophy (ALD) is an inherited genetic disease provoked by a mutation in the ABCD1 gene on the X chromosome, which leads to the accumulation of very long chain fatty acids in the plasma and tissues.

Recent data show an involvement of oxidative stress in the onset of ALD. Glutathione, a small protein, plays a major antioxidant role in cell defense, notably against free radicals.

In this study the glutathione balance in the white blood cells of 14 patients suffering from ALD was analyzed, as was the balance between the oxidized and non-oxidized forms of glutathione, to define their essential roles.

Analyses were carried out on blood samples (red and white blood cells, plasma) from 14 ALD patients and 30 healthy subjects to quantify the different forms of glutathione.

A significant reduction in total and non-oxidized glutathione was found in the white blood cells of patients, associated with high levels of all forms of oxidized glutathione. A major drop in free glutathione levels was observed in red blood cells. Furthermore, the substantial oxidative stress in ALD was confirmed by the measurement of specific markers in the plasma.

These results show the role played by oxidative stress in ALD and the importance of the balance between the different forms of glutathione, which can be considered as a potential biological marker of the illness.

Disease: X-linked Adrenoleukodystrophy (ALD)
Experimental model: Blood of 14 subjects suffering from ALD and 30 healthy subjects
Study type: Pathophysiology
Laboratory: Pr. Enrico Bertini, Bambino Gesu Hospital, Rome, Italy

Source : S. Petrillo, F. Piemonte, A. Pastore, G. Tozzi, C. Aiello, A. Pujol, M. Cappa, E. Bertini. Glutathione imbalance in patients with X-linked adrenoleukodystrophy. Mol. Genet. Metab. 2013 , 109(4):366-70.

Scientific information provided in collaboration with the INIST-CNRS Institute, Institute for Scientific and Technical Information

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