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Genetic analysis of the X-linked Adrenoleukodystrophy ABCD1 gene in Drosophila uncovers a role in Peroxisomal dynamics

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Manor, Joshua, Jangam, Sharayu V, Chung, Hyung-lok, Bhagwat, Pranjali, Andrews, Jonathan, Chester, Hillary, Kondo, Shu, Srivastav, Saurabh +4 more·2024·bioRxiv (Cold Spring Harbor Laboratory)
DOI 10.1101/2024.09.23.614586PMC PMC11463603
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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 facilitates VLCFA transport. X-ALD is considered a single peroxisomal component defect and does not play a direct role in peroxisome assembly. Drosophila models of other peroxisomal genes have provided mechanistic insight into some of the neurodegenerative mechanisms with reduced lifespan, retinal degeneration, and VLCFA accumulation. Here, we perform a genetic analysis of the fly ABCD1 ortholog Abcd1 (CG2316). Knockdown or deficiency of Abcd1 leads to VLCFA accumulation, salivary gland defects, locomotor impairment and retinal lipid abnormalities. Interestingly, there is also evidence of reduced peroxisomal numbers. Flies overexpressing the human cDNA for ABCD1 display a wing crumpling phenotype characteristic of the pex2 loss-of-function. Surprisingly, overexpression of human ABCD1 appears to inhibit or overwhelm peroxisomal biogenesis to levels similar to null mutations in fly pex2 , pex16 and pex3 . Drosophila Abcd1 is therefore implicated in peroxisomal number, and overexpression of the human ABCD1 gene acts a potent inhibitor of peroxisomal biogenesis in flies.

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  • Drosophila abcd1 mutant flies had fewer peroxisomes, demonstrating an ABCD1 role in peroxisomal biogenesis.

    “These mutant flies had fewer peroxisomes, demonstrating an ABCD1 role in peroxisomal biogenesis [194].”

    From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [194]

    The Results (page not provided) report fewer peroxisomes per cell area after Abcd1 RNAi knockdown, supporting the reduced-number finding. They do not report that the Abcd1Δ4 mutant flies had fewer peroxisomes. The paper links inhibited biogenesis to overexpression of human ABCD1 and presents that mechanism as an interpretation, not as demonstrated by the mutant flies. (LLM, conf=0.85)

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Authors
Manor, J., Jangam, S. V., Chung, H.-L., Bhagwat, P., Andrews, J., Chester, H., Kondo, S., Srivastav, S., Botas, J., Moser, A. B., Huguenin, S. M., & Wangler, M. F.
Affiliations
  • Sheba Medical Center (IL)
  • Baylor College of Medicine (US)
  • Houston Methodist (US)
  • Tokyo University of Science (JP)
  • Kennedy Krieger Institute (US)
Corresponding author
Wangler, Michael F
ORCID
Venue
bioRxiv (Cold Spring Harbor Laboratory)
Publisher
openRxiv
Published
2024-09-25
DOI
10.1101/2024.09.23.614586
PMC
PMC11463603
OpenAlex
W4402839689
Cited by
2
References
7
Citations by year
2025: 2
Type
posted content
Language
en
Open access
Licence
Locations
  • bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by)
  • PubMed (publishedVersion)
  • PubMed Central (submittedVersion, cc-by)
Funders
  • Japan Society for the Promotion of Science (24K21995)
  • National Institute of Neurological Disorders and Stroke (R01NS107733)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
  • Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
Keywords
X-linked adrenoleukodystrophy, ABCD1, peroxisome biogenesis, very long chain fatty acids, ABC transporters, Drosophila model, PEX2, PEX16, PEX3, locomotor impairment, neurodegeneration

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