This work has identified and characterized the roundworm Caenorhabditis elegans (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, the condition causes an accumulation of long-chain fatty acids, changes in lipid metabolism, oxidative imbalances in the mitochondria and neuronal disorders.
The work, published in Free Radical Biology and Medicine, has involved ICREA researchers from the Bellvitge Biomedical Research Institute (IDIBELL), the Network Biomedical Research Center (CIBERER), the Neurosciences Institute of the Autonomous University of Barcelona (INc-UAB), the Faculty of Medicine of the University of Vic—Central University of Catalonia (UVic-UCC), the Kennedy Krieger Institute from Baltimore, the MRC Mitochondrial Biology Unit from Cambridge, and the Institute of Biomedicine from Seville (IBIS).
A valuable genetic tool
"This model of adrenoleukodystrophy in C. elegans is a valuable genetic tool that will allow us to study the mechanisms involved in the disease and to find pharmacological targets faster than with other animal models, such as mice, which are much more complex and involve a costly and economically expensive process," says Esther Dalfó, who now is leading the C elegans models of diseases group between INC-UAB and the UVic-UCC.
The research team has obtained its first results. Though preliminary, they suggest that glial cells in the brain are responsible for the neurological alterations associated with the disease.