Genes and Proteins in Neuromuscular Disorders
Research type
Research Study
Full title
The expression and regulation of genes and proteins associated with neuromuscular disease.
IRAS ID
97714
Contact name
Francesco Muntoni
Contact email
Sponsor organisation
UCL - Institute of Child Health
Research summary
Primary neuromuscular disorders (NMD) are a group of disorders, many of which are inherited and characterised by childhood onset of progressive muscle weakness and wasting leading to disability and usually decreased survival. The diagnosis of individual disorders can be done by genetic and pathological studies. Typical examples are the dystrophinopathies (Duchenne and Becker muscular dystrophy), in which an abnormal expression of dystrophin can be identified using protein analysis and dystrophin mutations identified by genetic studies. The number of neuromuscular disorders secondary to a known protein or gene defect exceeds 80 but still 50% of NMD patients are without a genetic diagnosis. Our centre has a special interest in congenital myopathies and dystrophies and intends to use material derived from patients with and without a final molecular diagnosis in particular to assess the pathological changes of each of them, so we better understand how to recognise and diagnose them. We aim to use tissues and cells from patients (such as muscle, synovium, skin, and cell cultures) with a variety of neuromuscular disorders and normal controls to study the expression of proteins in the extracellular matrix, basal lamina, sarcolemma, cytoplasm, nuclear envelope, nucleus, sarcomeric apparatus and cytoskeleton for which expression might be primarily or secondarily altered. All tissue samples are obtained for diagnostic, surgical, research purposes, or from normal (control) volunteers. For samples collected after 01/09/2006, a consent form for the usage of the stored samples for research purposes is available for each patient. Since the human cells have undergone at least 4 divisions in vitro they are non-relevant under the Human Tissue ACT but we will obtain them from the MRC Centre for Neuromuscular Disease Biobank (REC ref 06/Q0406/33) which has a clause saying that samples can only be released to ethically-approved projects. We are therefore applying for a proportionate review.
REC name
London - Camberwell St Giles Research Ethics Committee
REC reference
13/LO/1894
Date of REC Opinion
26 Nov 2013
REC opinion
Favourable Opinion