Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage.

Autor: Zárybnický T; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, P.O. Box 63, 00014 Helsinki, Finland., Heikkinen A; Biocenter Oulu, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland.; Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, University of Oulu, P.O. Box 8000, 90014 Oulu, Finland., Kangas SM; Biocenter Oulu, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland.; PEDEGO Research Unit, University of Oulu, P.O. Box 8000, 90014 Oulu, Finland.; Medical Research Center, Oulu University Hospital, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland., Karikoski M; Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, 20520 Turku, Finland., Martínez-Nieto GA; Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, 20520 Turku, Finland.; Turku Center for Disease Modelling (TCDM), Institute of Biomedicine, University of Turku, 20520 Turku, Finland., Salo MH; Biocenter Oulu, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland.; PEDEGO Research Unit, University of Oulu, P.O. Box 8000, 90014 Oulu, Finland.; Medical Research Center, Oulu University Hospital, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland., Uusimaa J; PEDEGO Research Unit, University of Oulu, P.O. Box 8000, 90014 Oulu, Finland.; Medical Research Center, Oulu University Hospital, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland.; Clinic for Children and Adolescents, Division of Pediatric Neurology, Oulu University Hospital, P.O. Box 20, 90029 Oulu, Finland., Vuolteenaho R; Biocenter Oulu, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland., Hinttala R; Biocenter Oulu, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland.; PEDEGO Research Unit, University of Oulu, P.O. Box 8000, 90014 Oulu, Finland.; Medical Research Center, Oulu University Hospital, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland., Sipilä P; Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, 20520 Turku, Finland.; Turku Center for Disease Modelling (TCDM), Institute of Biomedicine, University of Turku, 20520 Turku, Finland., Kuure S; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, P.O. Box 63, 00014 Helsinki, Finland.; GM-Unit, Laboratory Animal Center, Helsinki Institute of Life Science, University of Helsinki, 00790 Helsinki, Finland.
Jazyk: angličtina
Zdroj: Cells [Cells] 2021 Nov 13; Vol. 10 (11). Date of Electronic Publication: 2021 Nov 13.
DOI: 10.3390/cells10113158
Abstrakt: The modification of genes in animal models has evidently and comprehensively improved our knowledge on proteins and signaling pathways in human physiology and pathology. In this review, we discuss almost 40 monogenic rare diseases that are enriched in the Finnish population and defined as the Finnish disease heritage (FDH). We will highlight how gene-modified mouse models have greatly facilitated the understanding of the pathological manifestations of these diseases and how some of the diseases still lack proper models. We urge the establishment of subsequent international consortiums to cooperatively plan and carry out future human disease modeling strategies. Detailed information on disease mechanisms brings along broader understanding of the molecular pathways they act along both parallel and transverse to the proteins affected in rare diseases, therefore also aiding understanding of common disease pathologies.
Databáze: MEDLINE
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