A burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN?

Bertrand Mollereau*, Susan J. Hayflick, Ricardo Escalante, Mario Mauthe, Apostolos Papandreou, Arcangela Iuso, Marion Celle, Sahra Aniorte, Abdul Raouf Issa, Jean Paul Lasserre, Gaetan Lesca, Stéphane Thobois, Pauline Burger, Ludivine Walter*

*Corresponding author for this work

    Research output: Contribution to journalArticleAcademicpeer-review

    2 Citations (Scopus)
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    Abstract

    Beta-propeller protein-associated neurodegeneration (BPAN) is a rare neurodegenerative disease associated with severe cognitive and motor deficits. BPAN pathophysiology and phenotypic spectrum are still emerging due to the fact that mutations in the WDR45 (WD repeat domain 45) gene, a regulator of macroautophagy/autophagy, were only identified a decade ago. In the first international symposium dedicated to BPAN, which was held in Lyon, France, a panel of international speakers, including several researchers from the autophagy community, presented their work on human patients, cellular and animal models, carrying WDR45 mutations and their homologs. Autophagy researchers found an opportunity to explore the defective function of autophagy mechanisms associated with WDR45 mutations, which underlie neuronal dysfunction and early death. Importantly, BPAN is one of the few human monogenic neurological diseases targeting a regulator of autophagy, which raises the possibility that it is a relevant model to directly assess the roles of autophagy in neurodegeneration and to develop autophagy restorative therapeutic strategies for more common disorders. 

    Abbreviations: ATG: autophagy related; BPAN: beta-propeller protein-associated neurodegeneration; ER: endoplasmic reticulum; KO: knockout; NBIA: neurodegeneration with brain iron accumulation; PtdIns3P: phosphatidylinositol-3-phosphate; ULK1: unc-51 like autophagy activating kinase 1; WDR45: WD repeat domain 45; WIPI: WD repeat domain, phosphoinositide interacting.

    Original languageEnglish
    Pages (from-to)3234-3239
    Number of pages6
    JournalAutophagy
    Volume19
    Issue number12
    DOIs
    Publication statusPublished - 2023

    Keywords

    • Brain
    • ferritinophagy
    • iron
    • macroautophagy
    • neurological disease
    • therapy

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