ANXA1 with Anti‐Inflammatory Properties Might Contribute to Parkinsonism. Issue 2 (12th July 2021)

• Record Type: Journal Article
• Authors: Darvish, Hossein; Azcona, Luis J.; Taghavi, Shaghayegh; Firouzabadi, Saghar Ghasemi; Tafakhori, Abbas; Alehabib, Elham; Mohajerani, Fatemeh; Zardadi, Safoura; Paisán‐Ruiz, Coro
• Is Part Of: Annals of neurology. Volume 90:Issue 2(2021)
• Page Start: 319
• Page End: 323
• Publication Date: 2021-07-12
• Subjects: Neurology -- Periodicals; Pediatric neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; 616.8
• DOI: 10.1002/ana.26148
• Languages: English
• ISSNs: 0364-5134

Abstract

Abstract : We here describe the identification of a novel variant in the anti‐inflammatory Annexin A1 protein likely to be the cause of disease in two siblings with autosomal recessive parkinsonism. The disease‐segregating variant was ascertained through a combination of homozygosity mapping and whole genome sequencing and was shown to impair phagocytosis in zebrafish mutant embryos. The highly conserved variant, absent in healthy individuals and public SNP databases, affected a functional domain of the protein with neuroprotective properties. This study supports the hypothesis that damaged microglia might lead to impairments in the clearance of accumulated and aggregated proteins resulting in parkinsonism. ANN NEUROL 2021;90:319–323