Generation of iPSCs from a Patient with the M694V Mutation in the MEFV Gene Associated with Familial Mediterranean Fever and Their Differentiation into Macrophages.

Autor: Grigor'eva EV; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 630090 Novosibirsk, Russia.; Meshalkin National Medical Research Center, Ministry of Health of the Russian Federation, 630055 Novosibirsk, Russia.; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of Russian Academy of Sciences, 630090 Novosibirsk, Russia., Karapetyan LV; Department of Bioengineering, Bioinformatics, and Molecular Biology, Institute of Biomedicine and Pharmacy, Russian-Armenian (Slavonic) University, Yerevan 0051, Armenia., Malakhova AA; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 630090 Novosibirsk, Russia.; Meshalkin National Medical Research Center, Ministry of Health of the Russian Federation, 630055 Novosibirsk, Russia.; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of Russian Academy of Sciences, 630090 Novosibirsk, Russia., Medvedev SP; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 630090 Novosibirsk, Russia.; Meshalkin National Medical Research Center, Ministry of Health of the Russian Federation, 630055 Novosibirsk, Russia.; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of Russian Academy of Sciences, 630090 Novosibirsk, Russia., Minina JM; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 630090 Novosibirsk, Russia., Hayrapetyan VH; Department of Bioengineering, Bioinformatics, and Molecular Biology, Institute of Biomedicine and Pharmacy, Russian-Armenian (Slavonic) University, Yerevan 0051, Armenia.; Institute of Molecular Biology NAS RA, Yerevan 0014, Armenia., Vardanyan VS; Department of Rheumatology, Yerevan State Medical University after Mkhitar Heratsi (YSMU), Yerevan 0025, Armenia.; Department of Rheumatology, 'Mikaelyan' Institute of Surgery, Yerevan 0052, Armenia., Zakian SM; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 630090 Novosibirsk, Russia.; Meshalkin National Medical Research Center, Ministry of Health of the Russian Federation, 630055 Novosibirsk, Russia.; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of Russian Academy of Sciences, 630090 Novosibirsk, Russia., Arakelyan A; Department of Bioengineering, Bioinformatics, and Molecular Biology, Institute of Biomedicine and Pharmacy, Russian-Armenian (Slavonic) University, Yerevan 0051, Armenia.; Institute of Molecular Biology NAS RA, Yerevan 0014, Armenia., Zakharyan R; Department of Bioengineering, Bioinformatics, and Molecular Biology, Institute of Biomedicine and Pharmacy, Russian-Armenian (Slavonic) University, Yerevan 0051, Armenia.; Institute of Molecular Biology NAS RA, Yerevan 0014, Armenia.
Jazyk: angličtina
Zdroj: International journal of molecular sciences [Int J Mol Sci] 2024 Jun 01; Vol. 25 (11). Date of Electronic Publication: 2024 Jun 01.
DOI: 10.3390/ijms25116102
Abstrakt: 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 encoding the pyrin protein. Despite the existing data on MEFV mutations, the exact mechanism of their effect on the development of the pathological processes leading to the spontaneous and recurrent autoinflammatory attacks observed in FMF, remains unclear. Induced pluripotent stem cells (iPSCs) are considered an important tool to study 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 from an Armenian patient with FMF carrying the 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. We found that the morphology of macrophages derived from iPSCs of a patient with the MEFV mutation significantly differed from that of macrophages derived from iPSCs of a healthy donor carrying the wild-type MEFV gene.
Databáze: MEDLINE
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