Evolution of the lipidome uncovers early changes in adrenoleukodystrophy human cortical and spinal organoids

Roberto Montoro Ferrer, Yorrick R.J. Jaspers, Nicki Coveña, Nicole Breeuwsma, Inge M.E. Dijkstra, Julia Kempff, Jan Bert van Klinken, Joke Wortel, Jan R.T. van Weering, Marc Engelen, Stephan Kemp, Vivi M. Heine*

*Corresponding author for this work

Research output: Contribution to JournalArticleAcademicpeer-review

Abstract

Lipids are critical for the structure, signaling, and metabolism of the central nervous system (CNS), yet their roles during human brain development remain underexplored due to limited tissue availability. X-linked adrenoleukodystrophy (ALD), a peroxisomal disorder caused by ABCD1 mutations, disrupts very long-chain fatty acid (VLCFA) degradation, leading to axonal degeneration and demyelination. To investigate lipid dynamics in CNS development and ALD pathogenesis, we generated human induced pluripotent stem cell (hiPSC)-derived cortical and spinal cord organoids and performed lipidomics over 200 days. Lipidomic analysis revealed a dynamic lipidome, with changes in lipid abundance, saturation, and chain length reflecting neurodevelopment. ALD hiPSC-derived organoids exhibited significant lipid alterations over time, including elevated VLCFA levels and reductions in brain-relevant lipids, such as sulfatides and gangliosides, in cortical organoids. These findings provide a foundational resource for studying lipid dynamics in CNS development and emphasize the value of organoids for understanding ALD and other CNS diseases.

Original languageEnglish
Article number114339
Pages (from-to)1-14, e1-e5
Number of pages19
JournaliScience
Volume29
Issue number1
Early online date4 Dec 2025
DOIs
Publication statusPublished - 16 Jan 2026

Bibliographical note

Publisher Copyright:
© 2025 The Author(s)

Keywords

  • Developmental neuroscience
  • Lipidomics
  • Nervous system anatomy

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