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Neuromuscular Disorders

We work to translate an understanding of the molecular mechanisms of disease at the neuromuscular synapse into treatments. Our work led us to be commissioned to provide a National Advisory and Diagnostic Service for congenital myasthenic syndromes.

Our work focuses on key molecules of the nerve muscle synapse
Our work focuses on key molecules of the nerve muscle synapse

Overview

We study diseases that affect neuromuscular transmission, with the major focus on mutations of muscle acetylcholine receptors (AChR) and of proteins that govern synaptic structure.

Research

The neuromuscular synapse is both well understood and accessible for study. Functional analysis of mutations at the molecular level can be directly correlated with measurements of defective synaptic transmission in vivo and with the clinical features of the patients.

The work ranges from the studies of single channels, through to animal models of disease, to phenotypic characterisation of patients. It provides translational research of bedside to bed and back, with the bench research generating data directly relevant to patient treatment regimes. Moreover, a detailed knowledge of inherited dysfunction of neuromuscular transmission forms a paradigm for investigation of other neurological syndromes that may result from defective synaptic transmission in the CNS.

 

Our team

Selected publications

β2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure.

Journal article

Vanhaesebrouck AE. et al, (2019), Brain, 142, 3713 - 3727

Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation.

Journal article

Cetin H. et al, (2019), Proc Natl Acad Sci U S A, 116, 21228 - 21235

Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design.

Journal article

Dong YY. et al, (2018), Cell, 175, 1045 - 1058.e16

Research projects

  • Developing new diagnostic tools for congenital myasthenia
  • Using a combination of biochemistry, molecular biology, electrophysiology and advanced microscopy to study the molecular mechanisms underlying disease
  • Testing novel therapies for inherited disorders of neuromuscular transmission using transgenic models

Congenital Myasthenia Service

The Congenital Myasthenia Service provides a nationally commissioned specialised service for the diagnosis and management of children and adults in whom a congenital myasthenic syndrome is suspected.