Hospital Sant Joan de Déu
Sharing to move ahead

New nematode model to study X-linked adrenoleukodystrophy

C. elegans
Monday, March 23, 2020

An international team of researchers led by Aurora Pujoll from IDIBELL characterized a new model of the Caenorhabditis elegans worm that lacks the pmp-4 gene, which has the same function as the ABCD1 gene in humans and whose loss causes X-linked adenoleukodystrophy (X-ALD). This rare disease of the nervous system has no treatment at the present time and it is one of the most common peroxisomal diseases. This pathology is generated as a result of an accumulation of very long chain fatty acids in the blood and nervous tissue, originating neuronal damage. People affected by X-ALD may suffer from brain and mobility problems and adrenal insufficiency, among other symptoms.

The study focuses on the analysis of the consequences of the loss of the pmp-4 gene at the cellular level, and has exposed that, as previously observed in humans and mice, the new C. elegans model shows an accumulation of very long chain fatty acids, changes in lipid (fat) metabolism, oxidative imbalances in mitochondria and neuronal degeneration. Researchers have also observed that glial cells — cells of the nervous system that provide support to the neurons — are responsible for the disease when the ABDC1 gene is mutated.

In the light of these results, researchers agree that this new animal model will be of great importance when it comes to accelerating research on the mechanisms involved in the X-ALD-related neuronal alterations and towards the search for potential pharmacological targets that will help to fight the disease.

Access to the original article: The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy. Free Radical Biology and Medicine.

Last modified: