The IDIBELL Neurometabolic Diseases group, with international collaboration, has identified a model of chromosome X-linked adrenoleukodystrophy (x-ALD) in the earthworm C. elegans. X-ALD is a rare disorder of the nervous system with no treatment available. The model should permit the acceleration of research and a reduction in the price of that research, which is studying the mechanisms and the possible pharmacological targets for the neuronal alterations of this disease. The earliest results of studies with this organism point to glial cells as responsible for the neurological damage caused by the disease. X-ALD is a rare genetic disease in which long-chain fatty acids accumulate in the blood and the nervous tissue, and where the myelin in the neurons is damaged. People who suffer from X-ALD (1 in 14,700 newborns) may have, among other things, brain and mobility problems, as well as hormonal disorders. The cause is a deficiency in the ABCD1 gene, which encodes the adrenoleukodystrophy protein (ALDP), which transports long-chain fatty acids to peroxisomes. These organelles play a very important role in lipid degradation and their subsequent cell use. This work has identified and characterized the worm C. elegans as a model of the disease, this model is deficient for the human analog protein (homologous) ALDP. The research team, co-led by Dr. Aurora Pujol and Esther Dalfó, analyzed the consequences of this deficit on a cellular level and found that, as in human and in existing mouse models, exist an accumulation of long-chain fatty acids, changes in lipid metabolism, oxidative imbalances in the mitochondria, and neuronal disorders. The model will allow accelerating the study of this disease, for which there is currently no treatment.
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