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Deletion of pmp-4, the Caenorhabditis elegans ortholog of the human peroxisomal VLCFA transporter Abcd1, provides a useful model for X-linked adrenoleukodystrophy (X-ALD)

AutorDalfó, Esther; Miranda-Vizuete, Antonio
Fecha de publicación2013
Citación4th Spanish Worm Meeting (2013)
ResumenX linked adrenoleukodystrophy (X-ALD) is a rare neurometabolic disease of fatal outcome characterized by a defective transport and subsequent degradation of saturated very long chain fatty acids (VLCFA) that ends up in axonal degeneration and demyelination. This is a monogenic disease caused by the loss of function of the peroxisomal transporter Abcd1. The mechanisms that underlie the link between dysregulated fatty acid homeostasis and neurodegeneration are poorly understood. The mouse model resulting from ablation of Abcd1 presents with a mild, very late onset phenotype that hampers molecular dissection of pathology. The invertebrate model organism Caenorhabditis elegans contains pmp-4, the ortholog of human Abcd1 and Abcd2. C. elegans pmp-4 is expressed in intestine and hypodermis, reported to be the main tissues accumulating peroxisomes in the nematode. Here we show that the pmp-4(ok396) deletion, which removes most of pmp-4 including the ATP binding site, produces a pleiotropic phenotype including lipid accumulation, increased vulnerability to oxidative stress, and axonal damage. Thus, the deletion mutant pmp-4(ok396) provides a useful platform for functional analysis of an invertebrate model of the human X-ALD disease.
DescripciónResumen del trabajo presentado al 4th Spanish Worm Meeting, celebrado en Carmona (Sevilla) del 14 al 15 de marzo de 2013.-- et al.
URIhttp://hdl.handle.net/10261/130182
Aparece en las colecciones: (CABD) Comunicaciones congresos
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