State-of-the-Art Methodologies to Functionally Characterize Cardiac and Skeletal Muscle from the Myofibril Level to Intact Muscle

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Guest Editors

Jolanda van der Velden

Amsterdam UMC, Department of Physiology

Jolanda van der Velden, PhD, is chair of the Department for Physiology at the Amsterdam University Medical Center and director of the Amsterdam Cardiovascular Sciences Institute. The main research interest of the van der Velden group is to study the role of sarcomeric proteins in cardiac performance. As mutations in sarcomeric proteins are a frequent cause of heart disease, research on inherited cardiomyopathies is a central research line in Amsterdam. Experiments are performed from the bench to the clinic. Expertise includes functional studies at single cardiac muscle and multicellular levels and mitochondrial studies in patient samples obtained during cardiac surgery and stem cell-derived heart models. Close collaboration with clinical departments allows translational research in which the functional studies in cardiac samples are combined within vivo parameters of cardiac pump function and energetics.

Diederik Kuster

Amsterdam UMC, Department of Physiology

Diederik Kuster, PhD, is an assistant professor of the Department of Physiology of Amsterdam UMC. His main research interest is understanding contraction and relaxation, particularly in inherited cardiomyopathies. After his training in chemistry, he obtained a PhD at the biochemistry/experimental cardiology departments of Erasmus University Medical Center studying cardiac hypertrophy. Postdoctoral training in Amsterdam and Loyola University Chicago focused on the mechanisms underlying inherited cardiomyopathies. His current research tries to understand the molecular regulators of contraction and relaxation, focusing on signal transduction and the cytoskeleton.

Coen Ottenheijm

Amsterdam University Medical Center, Department of Physiology

Dr. Coen Ottenheijm is a professor of physiology at the Department of Physiology at Amsterdam University Medical Centers in the Netherlands. His research group has a special interest in congenital myopathies caused by mutations in genes encoding thin filament proteins, such as nebulin and troponin, as well as the recently discovered thin filament-associated protein KBTBD13. He particularly focuses on diaphragm contractility and how this is affected during admission to the intensive care unit. He obtained his PhD at the Department of Pulmonology at Radboud University Medical Centers in the Netherlands, focusing on diaphragm weakness in patients with COPD. His postdoctoral research was performed at the University of Arizona and focused on nebulin’s role in muscle structure and function and how mutations in nebulin cause muscle weakness in nemaline myopathy.

Collection Overview

Skeletal and cardiac muscle weakness affects a large group of individuals worldwide and represents a major cause of reduced quality of life and mortality. Development of personalized treatment strategies to prevent and cure muscle weakness in this large and heterogeneous group of patients, warrants methodologies to characterize the functional properties of muscle preparations. The current collection aims to combine state-of-the-art methods to study the functional muscle parameters, including electrical activation, contraction, and relaxation, from the single myofibril to multicellular muscle preparations. In addition, we aim to highlight the combination of sophisticated low throughput methodologies with high throughput methods which enables to dissecting of the pathogenic mechanism of muscle weakness and screen effectiveness of new compounds and genetic interventions. The current methods allow studies in cardiac and skeletal muscle from animal models, but also analyses in human biopsy samples, and stem cell-derived cardiac and skeletal muscle preparations, allowing broad functional phenotyping of muscle.