email: c.ottenheijm@amsterdamumc.nl

Research interests

I am a professor of acquired and inherited muscle disease at the Department of Physiology at Amsterdam UMC. Our research group focuses on the role of sarcomere proteins in the development of muscle dysfunction. We focus on myopathies caused by gene variants and those acquired in the intensive care unit, with a special focus on respiratory muscles. 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).

Recent publications

research portal

1. Super-relaxed myosins contribute to respiratory muscle hibernation in mechanically ventilated patients. van den Berg M, Shi Z, Claassen WJ, Hooijman P, Lewis CTA, Andersen JL, van der Pijl RJ, Bogaards SJP, Conijn S, Peters EL, Begthel LPL, Uijterwijk B, Lindqvist J, Langlais PR, Girbes ARJ, Stapel S, Granzier H, Campbell KS, Ma W, Irving T, Hwee DT, Hartman JJ, Malik FI, Paul M, Beishuizen A, Ochala J, Heunks L, Ottenheijm CAC. Sci Transl Med. 2024. PMID: 39083588
2. Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease. Donkervoort S, van de Locht M, Ronchi D, Reunert J, McLean CA, Zaki M, Orbach R, de Winter JM, Conijn S, Hoomoedt D, Neto OLA, Magri F, Viaene AN, Foley AR, Gorokhova S, Bolduc V, Hu Y, Acquaye N, Napoli L, Park JH, Immadisetty K, Miles LB, Essawi M, McModie S, Ferreira LF, Zanotti S, Neuhaus SB, Medne L, ElBagoury N, Johnson KR, Zhang Y, Laing NG, Davis MR, Bryson-Richardson RJ, Hwee DT, Hartman JJ, Malik FI, Kekenes-Huskey PM, Comi GP, Sharaf-Eldin W, Marquardt T, Ravenscroft G, Bönnemann CG, Ottenheijm CAC. Sci Transl Med. 2024. PMID: 38569017
3. Actin maturation requires the ACTMAP/C19orf54 protease. Haahr P, Galli RA, van den Hengel LG, Bleijerveld OB, Kazokaitė-Adomaitienė J, Song JY, Kroese LJ, Krimpenfort P, Baltissen MP, Vermeulen M, Ottenheijm CAC, Brummelkamp TR. Science. 2022. PMID: 36173861
4. Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium. van de Locht M, Donkervoort S, de Winter JM, Conijn S, Begthel L, Kusters B, Mohassel P, Hu Y, Medne L, Quinn C, Moore SA, Foley AR, Seo G, Hwee DT, Malik FI, Irving T, Ma W, Granzier HL, Kamsteeg EJ, Immadisetty K, Kekenes-Huskey P, Pinto JR, Voermans N, Bönnemann CG, Ottenheijm CA. J Clin Invest. 2021. PMID: 33755597
5. Diaphragm Pathology in Critically Ill Patients With COVID-19 and Postmortem Findings From 3 Medical Centers. Shi Z, de Vries HJ, Vlaar APJ, van der Hoeven J, Boon RA, Heunks LMA, Ottenheijm CAC; Dutch COVID-19 Diaphragm Investigators. JAMA Intern Med. 2021. PMID: 33196760

Ongoing research projects

• 2025-2029        ZonMW; 700 k€ CONSORTIUM; 350 k€ for my group. Title: Respiratory muscles in end-stage lung disease: pathophysiological processes & clinical consequences
• 2023-2027      Prinsess Beatrix Muscle Foundation / Foundation Building Strength for Nemaline Myopaties; 280 k€ CONSORTIUM, Coordinator. Title: NEM6: from pathophysiology to treatment.
• 2023-2027       NIH; NHLBI; R01HL121500 (renewal); 2900 k$. Title: Role of titin in the pathophysiology of diaphragm weakness during mechanical ventilation.
• 2022-2026      TKI-LSH; 667 k€ CONSORTIUM; 330 k€ for my group. Title: Construction of a model for myositis based on human disease

Group members

• Wout Claassen, PhD student
• Tom Kerkhoff, PhD student
• Leander Vonk, PhD student
• Rianne Baelde, PhD student
• Stefan Conijn, Technician
• Sylvia Bogaards, Technician
• Buram Ardic, Technician

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