Genetic analysis of the X-linked Adrenoleukodystrophy <i>ABCD1 gene</i> in <i>Drosophila</i> uncovers a role in Peroxisomal dynamics.

ABSTRACT: X-linked adrenoleukodystrophy (X-ALD) is a progressive neurodegenerative disorder caused by a loss-of-function (LOF) mutation in the ATP-binding cassette subfamily D member 1 (ABCD1) gene, leading to the accumulation of very long-chain fatty acids (VLCFAs). This disorder exhibits striking heterogeneity; some male patients develop an early childhood neuroinflammatory demyelination disorder, while other patients, including adult males and most affected female carriers, experience a chronic progressive myelopathy. Adrenocortical failure is observed in almost all male patients, with age of onset varying sometimes being the first diagnostic finding. The gene underlying this spectrum of disease encodes an ATP-binding cassette (ABC) transporter that localizes to peroxisomes and faci

SUBMITTER: Manor J 

PROVIDER: S-EPMC11463603 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature