ESPEYB15 8 Adrenals New Paradigms (2 abstracts)
8.17 A zebrafish model of X-linked adrenoleukodystrophy recapitulates key disease features and demonstrates a developmental requirement for abcd1 in oligodendrocyte patterning and myelination
Strachan LR , Stevenson TJ , Freshner B , Keefe MD , Miranda Bowles D & Bonkowsky JL
Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA
To read the full abstract: Hum Mol Genet. 2017; 26(18): 3600-3614
X-linked adrenoleukodystrophy (ALD) is caused by genetic mutations in the ABCD1 gene coding for a peroxisomal transmembrane protein responsible for the metabolism of very long chain fatty acids (VLCFA). It manifests with a broad phenotype mainly involving the peripheral and central nervous system and the adrenals. However, the exact pathological mechanisms are largely unknown and treatment options are scarce. The newly developed zebrafish model developed here, by Bowles et al., provides new hope for better understanding this often devastating neurodegenerative disease. Unlike previous mouse models, the zebrafish model seems to better recapitulate human ALD. In addition to showing elevated VLCFA and alterations in myelination, it also reveals novel insight into Abcd1 as an important protein for oligodendrocyte generation and patterning. The model is also foreseen to be useful for testing of therapeutic drugs.
Volume 15
Article tools
My recent searches
My recently viewed abstracts
Authors
ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more