Neuromuscular Disorders

H. Komaki, E. Takeshita, Y. Motohashi, A. Ishiyama, M. Sasaki, K. Miyoshi, I. Yamamiya, N. Yamada, N. Minami September 10, 2017

Inflammation plays a major role in the pathogenesis of Duchenne muscular dystrophy (DMD). Prostaglandin D2 (PGD2) is produced by various inflammatory cells, and hematopoietic PGD synthase (HPGDS) is shown to be expressed in necrotic muscle of DMD patients. The administration of an HPGDS inhibitor decreased the urinary excretion of tetranor-PGDM, a urinary metabolite of PGD2, and suppressed myonecrosis in a mdx mouse model of DMD.… Read More...

R. Bloch, V. Lukyanenko, J. Muriel September 10, 2017

Dysferlin normally concentrates in the transverse tubules of skeletal muscle. When it is absent in dysferlin-null (A/J) fibers, osmotic shock injury (OSI) decreases the amplitude of voltage-induced Ca2+-transients (VICTs) and also markedly increases sarcoplasmic Ca2+ (Kerr et al, PNAS, 2013). Neither occurs in control A/WySnJ fibers.… Read More...

J. Laitila, E. McNamara, H. Goullee, M. Lawlor, J. Ochala, L. Griffiths, G. Ravenscroft, C. Sewry, N. Laing, C. Wallgren-Pettersson, K. Pelin, K. Nowak September 10, 2017

The typical form of autosomal recessive nemaline myopathy (NM) is most commonly caused by mutations in the nebulin gene (NEB). NEB mutations account for at least 50% of all NM cases worldwide, thus represent a significant disease burden. Most NEB-NM patients have a compound heterozygous genotype.… Read More...

C. Semplicini, C. Bertolin, B. Pantic, L. Bello, S. Vianello, F. Catapano, I. Colombo, M. Moggio, G. Sorarù, G. Cenacchi, C. Calore, R. Stramare, E. Pegoraro September 10, 2017

The triad is the skeletal muscle substructure responsible for excitation–contraction coupling by regulation of intracellular calcium homeostasis. A rapidly growing list of skeletal myopathies are caused by gene mutations in components of the triad (CASQ1, STIM1 and ORAI1), but the clinical and molecular features of these diseases are still largely unknown.… Read More...

F. Sanarica, P. Mantuano, A. Cozzoli, R. Capogrosso, N. Denora, A. Cutrignelli, E. Conte, A. Giustino, M. De Bellis, G. Camerino, A. De Luca September 10, 2017

Src Tyrosine Kinase (TK), a redox-sensitive protein, is overexpressed in dystrophin-deficient muscles and can be overactive due to excessive production of reactive oxygen species, contributing to β-dystroglycan degradation and reinforcing damaging signaling. Thus, the pharmacological inhibition of Src TK seems a feasible strategy to ameliorate Duchenne muscular dystrophy (DMD).… Read More...

S. Beecroft, R. Choi, C. McLean, M. Olive, M. Ryan, M. Davis, N. Laing, B. Launikonis, G. Ravenscroft September 10, 2017

Tubular aggregates and cylindrical spirals appear to be related entities, both arising from the sarcoplasmic reticulum, and sometimes appearing in the same biopsy. Tubular aggregates are inclusions of regular arrays of membrane tubules, while cylindrical spirals are accumulations of spiral lamellae around a central core.… Read More...

H. Jungbluth September 10, 2017

Excitation-contraction coupling (ECC) is the process whereby an electrical neuronal impulse is converted into myoplasmic Ca2+ release and, ultimately, muscle contraction. The two main players involved in skeletal muscle ECC are the dihydropyridine receptor (DHPR), a voltage-sensing L-type Ca2+ channel located on the transverse tubules, and the skeletal muscle ryanodine receptor (RyR1), the principal sarcoplasmic reticulum (SR) Ca2+ release channel located on the SR face membrane.… Read More...

L. Servais, M. Farrar, R. Finkel, J. Kirschner, F. Muntoni, P. Sun, S. Gheuens, E. Schneider, W. Farwell September 10, 2017

ENDEAR (NCT02193074) is a phase 3, randomized, double-blind, sham-procedure controlled 13-month study to assess the efficacy and safety of nusinersen in infants with SMA. Eligible infants (key criteria: genetic diagnosis of SMA, 2 SMN2 gene copies, symptom onset at ≤6 mos, and age ≤7 mos with no hypoxemia at screening) were randomized (2:1) to receive intrathecal nusinersen (12-mg scaled dose) or sham-procedure.… Read More...

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