s, UK Neuromuscular Translational Research Conference 2010 Posters / Neuromuscular Disorders 20S1 (2010) S5–S30 S11 Muscular Dystrophies: Other P21 Poster The relationship between syntrophins and syntrophin-binding sites (SBSs) in the dystrophins and dystrobrevins S.V. Böhm, R.N. Sewduth, L.L. Zhuo, P. Constantinou, R.G. Roberts. Department of Medical & Molecular Genetics, King’s College London...

The primary structure of the human laminin M chain was determined from cDNA clones isolated from human placental libraries. The clones covered a total of 6,942 bp, with 49-bp encoding a 5' end untranslated region and 6,893-bp coding for a translated sequence. The complete human laminin M chain contains a 22-residue signal peptide and 3,088 residues of the mature M chain. The M chain has a domai...

Rigid spine syndrome is a term first proposed by Dubowitz to describe a subset of patients affected by myopathy with early spinal contractures as a prominent feature. While spinal rigidity is a nonspecific feature, found in Emery-Dreifuss muscular dystrophy and in some congenital myopathies, it is also a prominent feature in a group of patients with merosin-positive congenital muscular dystroph...

UNLABELLED BACK: The functional organization of polarized epithelia depends mostly on adhesion molecules belonging to the integrin and cadherin families. These molecules either recognize basement membrane components, such as laminins, or form intercellular junctions via homotypic interactions. Such tissue organization is often disrupted upon neoplastic transformation, and the resulting loss of ...

The distribution of ot-dystroglycan (aDG) relative to acetylcholine receptors (ACHEs) and neural agrin was examined by immunofluorescent staining with mAb IIH6 in cultures of nerve and muscle cells derived from Xenopus embryos. In Western blots • probed with mAb IIH6, o~DG was evident in membrane extracts of Xenopus muscle but not brain, c~DG immunofluorescence was present at virtually all syna...

MDC1A, the second most prevalent form of congenital muscular dystrophy, results from laminin-α2 chain deficiency. This disease is characterized by extensive muscle wasting that results in extremely weak skeletal muscles. A large percentage of children with MDC1A are faced with respiratory as well as ambulatory difficulties. We investigated the effects of overexpressing insulin-like growth facto...

Congenital muscle dystrophy type 1A (MDC1A) is a muscle disease caused by mutations in the LAMA2 gene, encoding the basement membrane protein laminin α2 chain. MDC1A patients exhibit neonatal onset of muscle weakness, progressive muscle wasting and hypotonia, joint contractures that mostly affect elbows, hips, knees and ankles along with scoliosis and delayed motor milestones. Currently, there ...

Muscle atrophy, a significant characteristic of congenital muscular dystrophy with laminin α2 chain deficiency (also known as MDC1A), occurs by a change in the normal balance between protein synthesis and protein degradation. The ubiquitin-proteasome system (UPS) plays a key role in protein degradation in skeletal muscle cells. In order to identify new targets for drug therapy against MDC1A, we...

Skeletal muscle has high energy requirement and alterations in metabolism are associated with pathological conditions causing muscle wasting and impaired regeneration. Congenital muscular dystrophy type 1A (MDC1A) is a severe muscle disorder caused by mutations in the LAMA2 gene. Leigh syndrome (LS) is a neurometabolic disease caused by mutations in genes related to mitochondrial function. Skel...