{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T18:23:03Z","timestamp":1789755783380,"version":"4.0.1"},"reference-count":0,"publisher":"Maad Rayan Publishing Company","issue":"10","content-domain":{"domain":["www.aimjournal.ir"],"crossmark-restriction":false},"short-container-title":["Arch Iran Med"],"abstract":"\n Background:<\/jats:bold>\n Ankylosing spondylitis (AS; OMIM:106300) is a common complex inflammatory disease; in a previous study, we introduced a novel mutation in the\n RELN<\/jats:italic>\n gene (OMIM: 600514) which was associated with AS. This study is designed to investigate the potential effect of\n RELN<\/jats:italic>\n S2486G mutation on reelin secretion; additionally, we objected to evaluate the phospholipase A2 (\n PLA2G7<\/jats:italic>\n ) gene (OMIM: 601690) expression and platelet-activating factor-acetylhydrolase (PAF-AH) concentration as the downstream gene and the encoded protein.\n Methods:<\/jats:bold>\n The impact of the S2486G on reelin protein secretion was investigated in CHO-K1 and HEK-293T cells by constructing wild-type and mutant plasmids. Besides, the possible effect of the mutation on expression and concentration of\n PLA2G7<\/jats:italic>\n and PAF-AH in THP1 cells was assessed by quantitative real-time PCR (qRT-PCR) and enzyme-linked immunosorbent assay (ELISA), respectively. The study was performed at Tarbiat Modares University, Tehran, Iran, from 2016 to 2018.\n Results:<\/jats:bold>\n Our results showed that S2486G not only causes a significant reduction in reelin secretion in both HEK-293T and CHO-K1 cells, but also it leads to a significant reduction in\n PLA2G7<\/jats:italic>\n gene expression (\n P<\/jats:italic>\n value < 0.001) and protein level of PAF-AH in THP-1 cells (\n P<\/jats:italic>\n value < 0.003).\n Conclusion:<\/jats:bold>\n The S2486G mutation in\n RELN<\/jats:italic>\n can alter inflammatory and, to some extent, osteogenesis pathways mediated by reduced secretion of reelin and also reduced expression of the\n PLA2G7<\/jats:italic>\n gene.\n <\/jats:p>","DOI":"10.34172\/aim.2020.87","type":"journal-article","created":{"date-parts":[[2020,10,21]],"date-time":"2020-10-21T00:49:52Z","timestamp":1603241392000},"page":"688-696","update-policy":"https:\/\/doi.org\/10.34172\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Functional Analysis of\n RELN<\/i>\n S2486G Mutation and its Contribution to Pathogenesis of Ankylosing Spondylitis"],"prefix":"10.34172","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4042-2382","authenticated-orcid":true,"given":"Elika","family":"Esmaeilzadeh-Gharehdaghi","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9926-3975","authenticated-orcid":true,"given":"Ehsan","family":"Razmara","sequence":"additional","affiliation":[{"name":"Australian Regenerative Medicine Institute, Monash University, Clayton, VIC 3800, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amirreza","family":"Bitaraf","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmadreza","family":"Jamshidi","sequence":"additional","affiliation":[{"name":"Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahdi","family":"Mahmoudi","sequence":"additional","affiliation":[{"name":"Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran"},{"name":"Inflammation Research Center, Tehran University of Medical Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5508-7903","authenticated-orcid":true,"given":"Masoud","family":"Garshasbi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"20123","published-online":{"date-parts":[[2020,10,1]]},"container-title":["Archives of Iranian Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.aimjournal.ir\/PDF\/aim-23-688.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.aimjournal.ir\/PDF\/aim-23-688.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,21]],"date-time":"2020-10-21T00:49:53Z","timestamp":1603241393000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.aimjournal.ir\/Article\/aim-16978"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,1]]},"references-count":0,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2020,10]]}},"URL":"https:\/\/doi.org\/10.34172\/aim.2020.87","relation":{},"ISSN":["1029-2977","1735-3947"],"issn-type":[{"value":"1029-2977","type":"print"},{"value":"1735-3947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,1]]},"assertion":[{"value":"Academy of Medical Sciences of the I.R. Iran","name":"journal_owner","label":"Journal Owner"},{"value":"Academy of Medical Sciences of the I.R. Iran","name":"journal_publisher","label":"Journal Publisher"}]}}