Nemaline Myopathy Support Group

Research

Associate Professor Coen A.C. Ottenheijm (The Netherlands)

Research focus

The regulatory and pathogenic role of myofilament proteins in striated muscle contraction.

My research group focuses on the mechanisms that cause muscle weakness in patients with nemaline myopathy. I am fascinated by this disease for several reasons: First of all because it affects many children; since 4 years I have two little boys of my own (fortunately both are healthy), and since that time diseases that affect young children have my special attention. Second, because so very little is known about the mechanisms that cause muscle weakness in patients with NM. Finally, because to date there is no therapy that really improves muscle strength in patients.

During recent years I have initiated interesting and fruitfull collaborations with other scientists and MDs in this field, such as Dr Alan Beggs (Harvard Medical School). These collaborations have resulted in papers in which we aim to unravel how mutations in the genes responsible for NM cause weakness at the level of the muscle cell. Our first studies reveal that the nature of the mechanisms causing weakness depends on the gene involved. To me, this is very important as this suggests that the treatment strategies for patients with for instance mutations in the nebulin gene will have to be different from those for patients with mutations in the tropomyosin gene.
Below, you can find a selection of my recent papers on nemaline myopathy.

In the near future I plan to start studies that aim to test novel pharmaceutical agents that might be able to ameliorate weakness (by making muscle cells for responsive to calcium and thereby improving strength).

I would love to be involved in your website (nemaline.org). I noticed that several research groups disseminate their results through your website to inform patients and other scientists worldwide. To me it would be an honour if I could also disseminate the results from my lab through the website to inform patients. Also, it could be a very nice platform for me to get in contact with patients.

I am very curious about your thoughts on this,

With kind regards,
Coen Ottenheijm

Recent papers

  • Ottenheijm CAC, Lawlor MW, Stienen GJ, Granzier H, Beggs AH. Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy. Hum Mol Genet. 2011 May 15;20(10):2015-25.
  • Ottenheijm CAC., Hooijman P, DeChene E., Stienen GJ, Beggs AH, Granzier H. Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). J Struct Biol; 2010 May;170(2):334-43.
  • Ottenheijm CAC., Witt CC, Stienen GJ, Labeit S, Beggs AH, Granzier H. Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. 2009. Hum Mol Genet; 18(13):2359-69.
  • Lawlor MW, Ottenheijm CAC, Vilma-Lotta Lehtokari, Kiyomi Cho, Katarina Pelin, Carina Wallgren-Pettersson, Henk Granzier and Alan H Beggs Title : Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy. Skeletal Muscle, 2011.
  • Ottenheijm CAC, Granzier H. Lifting the nebula: novel insights into skeletal muscle contractility. Physiology; 2010 Oct;25(5):304-10.
More about Associate Professor Coen A.C. Ottenheijm »»

Department of Physiology - Medical Faculty at the VU campus

image

The secretary is located at:
Medical Faculty A 126
Van der Boechorststraat 7
1081 BT Amsterdam

Telephone number: (020)44 48110
Email address: ems.visser@vumc.nl

Head of Department is Prof Dr Jolanda van der Velden

Learn more »»

Supporting MAP Nemaline

In 2010 Meriel (aged 21 months) was diagnosed with Nemaline myopathy, a very rare muscle condition with no treatment or cure, which changed the lives of her family overnight. Setting up a family fund like MAP Nemaline is a great way to fundraise for Muscular Dystrophy UK to keep our vital research moving forward.

Learn more »»