Neuromuscular Disease

Advancing our understanding of neuromuscular and mitochondrial disease to explore mechanisms underlying sarcopenia in older people.

More about Neuromuscular Disease Research in Newcastle

Neuromuscular disorder is a broad term that encompasses many different syndromes and diseases that either directly, or indirectly impair the function of the skeletal muscles.

At the NIHR Newcastle Biomedical Research Centre, we have expertise in neuromuscular and mitochondrial disease research. We apply our well-established methods in these two areas to explore mechanisms underlying the cause of sarcopenia in older people.

Several mechanisms have been proposed, including impaired stem cell differentiation with age, impaired mitochondrial function, loss of motor neurones, and impaired neuromuscular junction function.

Neuromuscular disease research in Newcastle

Over the past decade, neuromuscular research in Newcastle has grown exponentially and our research has led to the development of two new NHS Highly Specialised services. We managed internationally-leading network projects in clinical neuromuscular disease that resulted in new clinical trials tools, which in turn significantly improved clinical care.

The research and clinical practice pioneered in Newcastle has had a global impact. These examples have led the way in providing reproductive choice for women with mitochondrial DNA mutations through Mitochondrial Donation. Furthermore, our research and clinical guidelines have helped double the life expectancy of boys born with DMD.

Our aims

Our current NIHR Newcastle Biomedical Research Centre Neuromuscular research will build on this international reputation in order to:

  • Deliver excellent care and treatment for all patients with neuromuscular disease
  • Provide infrastructure that enhances national and international networking and resources for patients with neuromuscular disease
  • Use knowledge gained from the study of neuromuscular disease to understanding the mechanisms underlying sarcopenia
  • Develop new ways to assess, treat and prevent sarcopenia

How we carry out research into neuromuscular disease

We explore the mechanisms in cohorts of individuals in different decades of life, including a new cohort of older people aged 85 years and over. This work uses a combination of muscle biopsies, muscle culture and neurophysiological techniques. We also examine the mechanisms by which diet and exercise can influence sarcopenia across the life course, by linking to the Human Nutrition Research Centre and the MRC Muscle Performance and Exercise Testing Laboratory.

The involvement of the public and patients through clinical trials is essential to our research. In mitochondrial disease for example, our cohorts of patients provide invaluable information about natural history; enabling detailed mechanistic studies of disease progression and providing new insights into potential therapies. This is particularly important because of the extremely variable clinical phenotype observed in mitochondrial patients, and our focus will be on disease mechanisms and potential therapies underlying these phenotypes.

Gathering cell lines and tissues from patients is also critical to the testing of new therapeutic approaches and for understanding the mechanistic interaction between the nuclear and mitochondrial genome, including the process of clonal expansion, which is fundamental to the role of mitochondria in disease and sarcopenia.