Projects per year
Personal profile
Research interests
I am a professor of acquired and inherited muscle disease at the Department of Physiology at Amsterdam UMC. At a national level, I am board member of the Dutch Center for Neuromuscular Diseases (Spierziekten Centrum Nederland) and at an international level I am member of the Research Committee of the European Neuromuscular Centre (ENMC). My research group focuses on the role of sarcomere proteins in the development of muscle dysfunction.
My interest in muscle physiology and the role of sarcomere proteins therein was awakened during my PhD studies, when I observed that in diaphragm muscle cells of patients with chronic obstructive pulmonary disease changes occur in the properties of titin and nebulin, leading to diaphragm dysfunction (supervisor Dr. Dekhuizen; Ph.D awarded in 2006).
These results prompted me to pursue a two-year (2006-2008) postdoctoral position at the University of Arizona (supervisor Dr. Henk Granzier) to further my knowledge on basic nebulin biology. Nebulin, a giant protein, plays important roles in multiple biological processes, such as muscle development, hypertrophy signaling, and muscle structure and mechanics. We discovered various roles for nebulin in skeletal muscle function, including that in the absence of nebulin the control of regulation of thin filament length is lost.
After these two years in the US, I moved back to the Netherlands. At the Department of Physiology at Amsterdam UMC, my research group started focusing on better understanding the role of nebulin and other sarcomere proteins in muscle disease; this work was funded by a NWO VENI, VIDI, and VICI grant, the Princess Beatrix Muscle Foundation, as well as by EU and NIH grants. Furthermore, we aim to develop novel superresolution-based microscopy techniques to localize nebulin and other muscle proteins with nanometer-precision, as well mechanics setups to measure the contractile properties of sarcomeres.
Finally, in collaboration with the department of Intensive Care Medicine at Amsterdam UMC and with my second affiliation at the University of Arizona, my research group focusses on the pathogenesis of diaphragm weakness in conditions associated with altered diaphragm activity, such as denervation and mechanical ventilation in the ICU (funded by ZonMW and NIH).
specialisation
2006: Ph.D degree; Radboud UMC, department of Pulmonology, Nijmegen, the Netherlands; Title: Diaphragm dysfunction in patients with COPD: role of the myofilaments
2001: M.Sc. degree; VU University; Human Movement Sciences, Amsterdam, the Netherlands.
Collaborations and top research areas from the last five years
Projects
- 1 Finished
-
Muscle fiber contractility in patients with immune-mediated necrotizing myopathy (myositis)
1/01/2023 → 30/06/2023
Project: Research
-
Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function
Landim-Vieira, M., Ma, W., Song, T., Rastegarpouyani, H., Gong, H., Coscarella, I. L., Bogaards, S. J. P., Conijn, S. P., Ottenheijm, C. A. C., Hwang, H. S., Papadaki, M., Knollmann, B. C., Sadayappan, S., Irving, T. C., Galkin, V. E., Chase, P. B. & Pinto, J. R., 6 Jun 2023, In: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 120, 23, p. e2221244120 e2221244120.Research output: Contribution to journal › Article › Academic › peer-review
Open Access6 Citations (Scopus) -
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant
Cardone, N., Moula, M., Baelde, R. J., Biquand, A., Villanova, M., Metay, C., Fiorillo, C., Baratto, S., Merlini, L., Sabatelli, P., Romero, N. B., Relaix, F., Authier, F. J. R., Taglietti, V., Savarese, M., de Winter, J., Ottenheijm, C., Richard, I. & Malfatti, E., 1 Dec 2023, In: Acta Neuropathologica Communications. 11, 1, 48.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Geranylgeranylacetone reduces cardiomyocyte stiffness and attenuates diastolic dysfunction in a rat model of cardiometabolic syndrome
Waddingham, M. T., Sequeira, V., Kuster, D. W. D., Dal Canto, E., Handoko, M. L., de Man, F. S., da Silva Gonçalves Bós, D., Ottenheijm, C. A., Shen, S., van der Pijl, R. J., van der Velden, J., Paulus, W. J. & Eringa, E. C., 1 Nov 2023, In: Physiological reports. 11, 22, e15788.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Inspiratory Muscle Training in Nemaline Myopathy
van Kleef, E. S. B., Langer, D., van Engelen, B. G. M., Ottenheijm, C. A. C., Voermans, N. C. & Doorduin, J., 8 Sept 2023, In: Journal of Neuromuscular Diseases. 10, 5, p. 825-834 10 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Replacement Fibrosis in the Diaphragm of Mechanically Ventilated Critically Ill Patients
Shi, Z., van den Berg, M., Bogaards, S., Conijn, S., Paul, M., Beishuizen, A., Heunks, L. & Ottenheijm, C. A. C., 1 Feb 2023, In: American journal of respiratory and critical care medicine. 207, 3, p. 351-354 4 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic