Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis.
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ABSTRACT:
SUBMITTER: Singh I
PROVIDER: S-EPMC3021280 | biostudies-literature | 2010 Jul
REPOSITORIES: biostudies-literature
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Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis.
Singh Inderjit I Pujol Aurora A
Brain pathology (Zurich, Switzerland) 20100701 4
X-adrenoleukodystrophy (X-ALD) is a complex disease where inactivation of ABCD1 gene results in clinically diverse phenotypes, the fatal disorder of cerebral ALD (cALD) or a milder disorder of adrenomyeloneuropathy (AMN). Loss of ABCD1 function results in defective beta oxidation of very long chain fatty acids (VLCFA) resulting in excessive accumulation of VLCFA, the biochemical "hall mark" of X-ALD. At present, the ABCD1-mediated mechanisms that determine the different phenotype of X-ALD are no ...[more]
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