Bone Phenotyping Approaches in Human, Mice and Zebrafish - Expert Overview of the EU Cost Action GEMSTONE ("GEnomics of MusculoSkeletal traits TranslatiOnal NEtwork")

Ines Foessl; J H Duncan Bassett; Åshild Bjørnerem; Björn Busse; Ângelo Calado; Pascale Chavassieux; Maria Christou; Eleni Douni; Imke A K Fiedler; João Eurico Fonseca; Eva Hassler; Wolfgang Högler; Erika Kague; David Karasik; Patricia Khashayar; Bente L Langdahl; Victoria D Leitch; Philippe Lopes; Georgios Markozannes; Fiona E A McGuigan; Carolina Medina-Gomez; Evangelia Ntzani; Ling Oei; Claes Ohlsson; Pawel Szulc; Jonathan H Tobias; Katerina Trajanoska; Şansın Tuzun; Amina Valjevac; Bert van Rietbergen; Graham R Williams; Tatjana Zekic; Fernando Rivadeneira; Barbara Obermayer-Pietsch

doi:10.3389/fendo.2021.720728

Bone Phenotyping Approaches in Human, Mice and Zebrafish - Expert Overview of the EU Cost Action GEMSTONE ("GEnomics of MusculoSkeletal traits TranslatiOnal NEtwork")

Front Endocrinol (Lausanne). 2021 Dec 1:12:720728. doi: 10.3389/fendo.2021.720728. eCollection 2021.

Authors

Ines Foessl¹, J H Duncan Bassett², Åshild Bjørnerem^{3

4}, Björn Busse⁵, Ângelo Calado⁶, Pascale Chavassieux⁷, Maria Christou⁸, Eleni Douni^{9

10}, Imke A K Fiedler⁵, João Eurico Fonseca^{6

11}, Eva Hassler¹², Wolfgang Högler¹³, Erika Kague¹⁴, David Karasik¹⁵, Patricia Khashayar¹⁶, Bente L Langdahl¹⁷, Victoria D Leitch¹⁸, Philippe Lopes¹⁹, Georgios Markozannes⁸, Fiona E A McGuigan¹⁹, Carolina Medina-Gomez²⁰, Evangelia Ntzani^{8

21}, Ling Oei²², Claes Ohlsson^{22

23}, Pawel Szulc⁷, Jonathan H Tobias^{24

25}, Katerina Trajanoska²⁰, Şansın Tuzun²⁶, Amina Valjevac²⁷, Bert van Rietbergen²⁸, Graham R Williams², Tatjana Zekic²⁹, Fernando Rivadeneira²⁰, Barbara Obermayer-Pietsch¹

Affiliations

¹ Department of Internal Medicine, Division of Endocrinology and Diabetology, Endocrine Lab Platform, Medical University of Graz, Graz, Austria.
² Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, United Kingdom.
³ Department of Clinical Medicine, UiT The Arctic University of Norway, Tromsø, Norway.
⁴ Norwegian Research Centre for Women's Health, Oslo University Hospital, Oslo, Norway.
⁵ Department of Osteology and Biomechanics, University Medical Center, Hamburg-Eppendorf, Hamburg, Germany.
⁶ Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Centro Académico de Medicina de Lisboa, Lisboa, Portugal.
⁷ INSERM UMR 1033, University of Lyon, Lyon, France.
⁸ Department of Hygiene and Epidemiology, Medical School, University of Ioannina, Ioannina, Greece.
⁹ Institute for Bioinnovation, Biomedical Sciences Research Center "Alexander Fleming", Vari, Greece.
¹⁰ Department of Biotechnology, Agricultural University of Athens, Athens, Greece.
¹¹ Rheumatology Department, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte (CHULN), Lisbon Academic Medical Centre, Lisbon, Portugal.
¹² Division of Neuroradiology, Vascular and Interventional Radiology, Department of Radiology, Medical University Graz, Graz, Austria.
¹³ Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.
¹⁴ The School of Physiology, Pharmacology and Neuroscience, Biomedical Sciences, University of Bristol, Bristol, United Kingdom.
¹⁵ Azrieli Faculty of Medicine, Bar-Ilan University, Ramat Gan, Israel.
¹⁶ Center for Microsystems Technology, Imec and Ghent University, Ghent, Belgium.
¹⁷ Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.
¹⁸ Innovative Manufacturing Cooperative Research Centre, Royal Melbourne Institute of Technology, School of Engineering, Carlton, VIC, Australia.
¹⁹ Department of Clinical Sciences, Lund University, Malmö, Sweden.
²⁰ Department of Internal Medicine, Erasmus MC Rotterdam, Rotterdam, Netherlands.
²¹ Department of Health Services, Policy and Practice, Center for Research Synthesis in Health, School of Public Health, Brown University, Providence, RI, United States.
²² Centre for Bone and Arthritis Research, Institute of Medicine, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.
²³ Department of Drug Treatment, Sahlgrenska University Hospital, Gothenburg, Sweden.
²⁴ Musculoskeletal Research Unit, Translational Health Sciences, Bristol Medical School, University of Bristol, Bristol, United Kingdom.
²⁵ MRC Integrative Epidemiology Unit, Bristol Medical School, Bristol, University of Bristol, Bristol, United Kingdom.
²⁶ Physical Medicine & Rehabilitation Department, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpaşa, Istanbul, Turkey.
²⁷ Department of Human Physiology, School of Medicine, University of Sarajevo, Sarajevo, Bosnia and Herzegovina.
²⁸ Department of Biomedical Engineering, Eindhoven University of Technology, Eindhoven, Netherlands.
²⁹ Department of Rheumatology and Clinical Immunology, Faculty of Medicine, Clinical Hospital Center Rijeka, Rijeka, Croatia.

Abstract

A synoptic overview of scientific methods applied in bone and associated research fields across species has yet to be published. Experts from the EU Cost Action GEMSTONE ("GEnomics of MusculoSkeletal Traits translational Network") Working Group 2 present an overview of the routine techniques as well as clinical and research approaches employed to characterize bone phenotypes in humans and selected animal models (mice and zebrafish) of health and disease. The goal is consolidation of knowledge and a map for future research. This expert paper provides a comprehensive overview of state-of-the-art technologies to investigate bone properties in humans and animals - including their strengths and weaknesses. New research methodologies are outlined and future strategies are discussed to combine phenotypic with rapidly developing -omics data in order to advance musculoskeletal research and move towards "personalised medicine".

Keywords: COST; GEMSTONE; animal models; bone and skeletal diseases; imaging; phenotyping.

Copyright © 2021 Foessl, Bassett, Bjørnerem, Busse, Calado, Chavassieux, Christou, Douni, Fiedler, Fonseca, Hassler, Högler, Kague, Karasik, Khashayar, Langdahl, Leitch, Lopes, Markozannes, McGuigan, Medina-Gomez, Ntzani, Oei, Ohlsson, Szulc, Tobias, Trajanoska, Tuzun, Valjevac, van Rietbergen, Williams, Zekic, Rivadeneira and Obermayer-Pietsch.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Animals
Bone and Bones / metabolism*
Bone and Bones / pathology
Gene Regulatory Networks / physiology
Genomics / methods*
Humans
Mice
Models, Animal
Musculoskeletal Physiological Phenomena / genetics*
Phenotype
Proteomics / methods
Zebrafish

Grants and funding

WT_/Wellcome Trust/United Kingdom