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Anxa1 With Anti-Inflammatory Properties Might Contribute to Parkinsonism Publisher Pubmed



Darvish H1 ; Azcona LJ2, 3 ; Taghavi S4 ; Firouzabadi SG5 ; Tafakhori A6 ; Alehabib E4 ; Mohajerani F7 ; Zardadi S8 ; Paisanruiz C2, 9, 10
Authors
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Authors Affiliations
  1. 1. Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran
  2. 2. Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, United States
  3. 3. Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, United States
  4. 4. Student Research Committee, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  5. 5. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
  6. 6. Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran
  7. 7. Department of Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran
  8. 8. Department of Biology, School of Basic Sciences, Science and Research Branch, Islamic Azad University, Tehran, Iran
  9. 9. Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, United States
  10. 10. Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, United States

Source: Annals of Neurology Published:2021


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. © 2021 American Neurological Association.
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