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Muscle Biology

Muscle Biology

Section Head: Professor Mathias Gautel

Deputy Head: Dr Elisabeth Ehler

The Biology and Biomedicine of Striated Muscle

The Muscle Biology Section share a common interest in the molecular mechanisms that govern the formation, growth, function and repair of striated muscle as the necessary foundation for understanding inherited and acquired muscle disease.

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We study genetic regulation of development of the musculo-skeletal and cardiac systems, signalling proteins regulating contraction, turnover and structural integrity of striated muscle, and fundamental mechanisms of contraction and regulation in skeletal and cardiac muscle. We have a strong translational outreach, with many projects employing our approaches to understanding mechanisms of human disease, including muscular dystrophies, limb malformations, cardiomyopathies, critical illness myopathy and early-onset myopathies in children.

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We use molecular, cellular, biochemical and biophysical techniques to investigate mechanisms that organise the smallest contractile unit of striated muscle, the sarcomere. Sarcomeres are complex macromolecular assemblies, built of many self-interacting proteins that are organised in a highly specific way into filamentous and anchoring structures. We are particularly interested in how sarcomeres cross-talk to mechanisms controlling muscle growth and turnover, and how conformational changes in sarcomeric proteins regulate signalling and contractility.  We also employ structural biology approaches to understand key proteins at the atomic level, and how human mutations impact on their structure and function in disease.
We are also interested in understanding the basic genetic programmes that govern muscle formation and the integration of this process with limb development at the organismic level. In mature skeletal muscle, we aim to dissect the role of muscle stem cells in maintenance, repair and regeneration. Further, we wish to understand how these processes are regulated and how they go awry in ageing or disease. Our genetic approaches require us to employ our experimental techniques in different model systems. 

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Understanding the processes of muscle development and growth in simple vertebrates is not only intrinsically interesting, but also has implications for muscle biology in man.

Outreach –Research links and forum organisation

The section has many active research links to clinical groups working on translational questions of muscle disease in children and adults, with joint grants and PhD students. Members of the section are also part of the KCL BHF Centre of Research Excellence and the Evelina London Children’s Hospital.

We also organise the London Myology Forum, together with Colleagues from the MRC Centre for Neuromuscular Disease  (Institute of Child Health (UCL), Institute of Neurology (UCL), University of Newcastle upon Tyne) and the Royal Veterinary College. This meets twice a year to provide a regular platform for the presentation and discussion of basic and clinical research into muscle biology, disease and therapy ( .


Section Members

* also member of the Cardiovascular Division

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