In vivo characterization of human myofibrillar myopathy genes in zebrafish

Buehrdel JB, Hirth S, Kessler M, Westphal S, Forster M, Manta L, Wiche G, Schoser B, Schessl J, Schröder R, Clemen CS, Eichinger L, Fuerst DO, Van Der Ven PFM, Rottbauer W, Just S (2015)

Publication Type: Journal article

Publication year: 2015

Journal

Biochemical and Biophysical Research Communications Elsevier

Book Volume: 461

Pages Range: 217-23

Journal Issue: 2

DOI: 10.1016/j.bbrc.2015.03.149

Abstract

Myofibrillar myopathies (MFM) are progressive diseases of human heart and skeletal muscle with a severe impact on life quality and expectancy of affected patients. Although recently several disease genes for myofibrillar myopathies could be identified, today most genetic causes and particularly the associated mechanisms and signaling events that lead from the mutation to the disease phenotype are still mostly unknown. To assess whether the zebrafish is a suitable model system to validate MFM candidate genes using targeted antisense-mediated knock-down strategies, we here specifically inactivated known human MFM disease genes and evaluated the resulting muscular and cardiac phenotypes functionally and structurally. Consistently, targeted ablation of MFM genes in zebrafish led to compromised skeletal muscle function mostly due to myofibrillar degeneration as well as severe heart failure. Similar to what was shown in MFM patients, MFM gene-deficient zebrafish showed pronounced gene-specific phenotypic and structural differences. In summary, our results indicate that the zebrafish is a suitable model to functionally and structurally evaluate novel MFM disease genes in vivo.

Authors with CRIS profile

Rolf Schröder Professur für Neuropathologie

Involved external institutions

Universität Ulm DE Germany (DE) Medizinische Universität Wien AT Austria (AT) Ludwig-Maximilians-Universität (LMU) DE Germany (DE) Universität zu Köln DE Germany (DE) Rheinische Friedrich-Wilhelms-Universität Bonn DE Germany (DE)

How to cite

APA:

Buehrdel, J.B., Hirth, S., Kessler, M., Westphal, S., Forster, M., Manta, L.,... Just, S. (2015). In vivo characterization of human myofibrillar myopathy genes in zebrafish. Biochemical and Biophysical Research Communications, 461(2), 217-23. https://doi.org/10.1016/j.bbrc.2015.03.149

MLA:

Buehrdel, John B., et al. "In vivo characterization of human myofibrillar myopathy genes in zebrafish." Biochemical and Biophysical Research Communications 461.2 (2015): 217-23.

BibTeX: Download