CE17 - Recherche translationnelle en santé

MACROPHAGES ACTIVATION PATTERN IN X LINKED ADRENOLEUKODYSTROPHY – MATTRIX

Submission summary

X-linked adrenoleukodystrophy (X-ALD) shows a phenotypic variability, ranging from the devastating inflammatory childhood cerebral ALD to a progressive spastic paraplegia in adulthood. Lipid compounds, which are abnormal in X-ALD, play a critical role in the differentiation states of macrophages, cells implicated in disease pathogenesis. We will explore how X-ALD mutations perturb differently immune cells comparing patients with different disease forms. We plan to reconstitute how macrophages handle specific stimuli (acquiring degenerative versus regenerative phenotype) and see how X-ALD mutations affect their responsiveness. Understanding the inter-individual heterogeneity of macrophages responsiveness will help us identify novel biomarkers linked to disease severity. We also plan to determine molecular pathway(s) that can be corrected to gear macrophages toward a pro-regenerative phenotype. If successful, our approach may lead to “individualized medicine” for these patients.

Project coordinator

Madame Violetta ZUJOVIC (Institut du Cerveau)

The author of this summary is the project coordinator, who is responsible for the content of this summary. The ANR declines any responsibility as for its contents.

Partner

ICM Institut du Cerveau
ICM Institut du Cerveau

Help of the ANR 404,172 euros
Beginning and duration of the scientific project: December 2022 - 24 Months

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