Grigor’eva, E.V.; Karapetyan, L.V.; Malakhova, A.A.; Medvedev, S.P.; Minina, J.M.; Hayrapetyan, V.H.; Vardanyan, V.S.; Zakian, S.M.; Arakelyan, A.; Zakharyan, R. Generation of iPSCs from a Patient with the M694V Mutation in the MEFV Gene Associated with Familial Mediterranean Fever and Their Differentiation into Macrophages. Int. J. Mol. Sci.2024, 25, 6102.
Grigor’eva, E.V.; Karapetyan, L.V.; Malakhova, A.A.; Medvedev, S.P.; Minina, J.M.; Hayrapetyan, V.H.; Vardanyan, V.S.; Zakian, S.M.; Arakelyan, A.; Zakharyan, R. Generation of iPSCs from a Patient with the M694V Mutation in the MEFV Gene Associated with Familial Mediterranean Fever and Their Differentiation into Macrophages. Int. J. Mol. Sci. 2024, 25, 6102.
Grigor’eva, E.V.; Karapetyan, L.V.; Malakhova, A.A.; Medvedev, S.P.; Minina, J.M.; Hayrapetyan, V.H.; Vardanyan, V.S.; Zakian, S.M.; Arakelyan, A.; Zakharyan, R. Generation of iPSCs from a Patient with the M694V Mutation in the MEFV Gene Associated with Familial Mediterranean Fever and Their Differentiation into Macrophages. Int. J. Mol. Sci.2024, 25, 6102.
Grigor’eva, E.V.; Karapetyan, L.V.; Malakhova, A.A.; Medvedev, S.P.; Minina, J.M.; Hayrapetyan, V.H.; Vardanyan, V.S.; Zakian, S.M.; Arakelyan, A.; Zakharyan, R. Generation of iPSCs from a Patient with the M694V Mutation in the MEFV Gene Associated with Familial Mediterranean Fever and Their Differentiation into Macrophages. Int. J. Mol. Sci. 2024, 25, 6102.
Abstract
Familial Mediterranean fever (FMF) is a systemic autoinflammatory disorder caused by inherited mutations in the MEFV (Mediterranean FeVer) gene located on chromosome 16 (16p13.3) and coding pyrin protein. Despite the existing data on MEFV mutations, the exact mechanism of their effect on the development of pathological processes leading to autoinflammation observed in FMF, remains unclear. Induced pluripotent stem cells (iPSCs) are considered an important tool for studying the molecular genetic mechanisms of various diseases due to their ability to differentiate into any cell type, including macrophages, which contribute to the development of FMF. In this study, we developed iPSCs of an Armenian patient with FMF having M694V, p.(Met694Val) (c.2080A>G, rs61752717) pathogenic mutation in exon 10 of the MEFV gene. As a result of direct differentiation, macrophages expressing CD14 and CD45 surface markers were obtained. In addition, we found that the morphology of patient macrophages derived from iPSCs with MEFV mutation was significantly different from that of differentiated from iPSCs of a healthy donor carrying wild-type MEFV gene.
Biology and Life Sciences, Cell and Developmental Biology
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