A review of standardized high-throughput cardiovascular phenotyping with a link to metabolism in mice

0573452 - ÚMG 2024 RIV DE eng J - Journal Article
Lindovský, Jiří - Nichtová, Zuzana - Dragano, N. R. V. - Pajuelo Reguera, David - Procházka, Jan - Fuchs, H. - Marschall, S. - Gailus-Durner, V. - Sedláček, Radislav - Hrabě de Angelis, M. - Rozman, Jan - Spielmann, N.
A review of standardized high-throughput cardiovascular phenotyping with a link to metabolism in mice.
Mammalian Genome. Roč. 34, č. 2 (2023), s. 107-122. ISSN 0938-8990. E-ISSN 1432-1777
R&D Projects: GA MŠMT(CZ) LM2018126; GA MŠMT LM2023036; GA MŠMT EF18_046/0015861; GA MŠMT EF16_013/0001789; GA MŠMT ED2.1.00/19.0395
Institutional support: RVO:68378050
Keywords : cardiovascular phenotyping * mice * metabolism * cardiovascular diseases
OECD category: Biochemistry and molecular biology
Impact factor: 2.5, year: 2022
Method of publishing: Open access
https://link.springer.com/article/10.1007/s00335-023-09997-w

Cardiovascular diseases cause a high mortality rate worldwide and represent a major burden for health care systems. Experimental rodent models play a central role in cardiovascular disease research by effectively simulating human cardiovascular diseases. Using mice, the International Mouse Phenotyping Consortium (IMPC) aims to target each protein-coding gene and phenotype multiple organ systems in single-gene knockout models by a global network of mouse clinics. In this review, we summarize the current advances of the IMPC in cardiac research and describe in detail the diagnostic requirements of high-throughput electrocardiography and transthoracic echocardiography capable of detecting cardiac arrhythmias and cardiomyopathies in mice. Beyond that, we are linking metabolism to the heart and describing phenotypes that emerge in a set of known genes, when knocked out in mice, such as the leptin receptor (Lepr), leptin (Lep), and Bardet–Biedl syndrome 5 (Bbs5). Furthermore, we are presenting not yet associated loss-of-function genes affecting both, metabolism and the cardiovascular system, such as the RING finger protein 10 (Rfn10), F-box protein 38 (Fbxo38), and Dipeptidyl peptidase 8 (Dpp8). These extensive high-throughput data from IMPC mice provide a promising opportunity to explore genetics causing metabolic heart disease with an important translational approach.
Permanent Link: https://hdl.handle.net/11104/0343906