Abstract
INTRODUCTION X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene that results in elevated very long-chain fatty acids (VLCFA) levels in tissues. X-ALD can manifest as a rapidly progressive and fatal cerebral infl ammatory demyelinating disease (cerebral ALD) or as a slowly progressive noninfl ammatory distal axonopathy (AMN). Biochemical analysis suggests that VLCFA play an important role in the onset of cerebral ALD: myelin from cerebral ALD patients contains more VLCFA compared to myelin from AMN patients. Unfortunately, this cannot be proven in the X-ALD knockout (Abcd1-/-) mouse develop AMN at 20 months of age. Experimental evidence indicates this could be due to a limited increase in VLCFA in Abcd1-/mouse brain. VLCFA are synthesized by ELOVL1. To increase the brain VLCFA load and hopefully induce a cerebral phenotype in Abcd1-/mice, we generated a conditional ELOVL1 transgenic Abcd1-/mouse.
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