Haikazian, S. and Olson, M. F. (2022) MICAL1 monooxygenase in autosomal dominant lateral temporal epilepsy: role in cytoskeletal regulation and relation to cancer. Genes, 13(5), 715. (doi: 10.3390/genes13050715) (PMID:35627100) (PMCID:PMC9141472)
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Abstract
Autosomal dominant lateral temporal epilepsy (ADLTE) is a genetic focal epilepsy associated with mutations in the LGI1, RELN, and MICAL1 genes. A previous study linking ADLTE with two MICAL1 mutations that resulted in the substitution of a highly conserved glycine residue for serine (G150S) or a frameshift mutation that swapped the last three C-terminal amino acids for 59 extra residues (A1065fs) concluded that the mutations increased enzymatic activity and promoted cell contraction. The roles of the Molecule Interacting with CasL 1 (MICAL1) protein in tightly regulated semaphorin signaling pathways suggest that activating MICAL1 mutations could result in defects in axonal guidance during neuronal development. Further studies would help to illuminate the causal relationships of these point mutations with ADLTE. In this review, we discuss the proposed pathogenesis caused by mutations in these three genes, with a particular emphasis on the G150S point mutation discovered in MICAL1. We also consider whether these types of activating MICAL1 mutations could be linked to cancer.
Item Type: | Articles |
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Additional Information: | This research was funded by the Canadian Institutes of Health Research (PJT-169125), Natural Sciences and Engineering Research Council of Canada (RGPIN-2020-05388), Ontario Institute for Cancer Research (P.CTIP.842) and the Canada Research Chairs Program (950-231665). |
Status: | Published |
Refereed: | Yes |
Glasgow Author(s) Enlighten ID: | Olson, Professor Michael |
Creator Roles: | Olson, M. F.Conceptualization, Formal analysis, Writing – original draft, Writing – review and editing, Visualization, Supervision, Project administration, Funding acquisition |
Authors: | Haikazian, S., and Olson, M. F. |
College/School: | College of Medical Veterinary and Life Sciences > School of Cancer Sciences |
Journal Name: | Genes |
Publisher: | MDPI |
ISSN: | 2073-4425 |
ISSN (Online): | 2073-4425 |
Published Online: | 19 April 2022 |
Copyright Holders: | Copyright © 2022 The Authors |
First Published: | First published in Genes 13(5): 715 |
Publisher Policy: | Reproduced under a Creative Commons License |
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