Non-muscle involvement in late-onset glycogenosis II.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology (2014-01-09)
Massimiliano Filosto, Alice Todeschini, Maria Sofia Cotelli, Valentina Vielmi, Fabrizio Rinaldi, Silvia Rota, Mauro Scarpelli, Alessandro Padovani
ABSTRACT

Glycogenosis II (GSD II) is an autosomal recessive lysosomal storage disorder resulting from acid alpha-glucosidase deficiency, subsequent accumulation of glycogen in tissues, impairment of autophagic processes and progressive cardiac, motor and respiratory failure. The late-onset form is characterized by wide variability in residual enzyme activity, age of onset, rate of disease progression and phenotypical spectrum. Although the pathological process mainly affects the skeletal muscle, several other tissues may be involved in the course of the disease; therefore GSD II should be regarded as a multisystem disorder in which glycogen accumulation is present in skeletal and smooth muscle, heart, brain, liver, spleen, salivary glands, kidney and blood vessels. In this review, we briefly summarize the main non-muscle targets of the pathological process in late-onset GSD II. Further studies aimed at evaluating the extra-muscle involvement in this group of patients will help to better define clinical features and prognostic factors and to delineate the natural history of the disease.

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
α-Glucosidase from Saccharomyces cerevisiae, Type I, lyophilized powder, ≥10 units/mg protein (using p-nitrophenyl α-D-glucoside as substrate.)
Sigma-Aldrich
Glycogen from oyster, ≥75% dry basis
Sigma-Aldrich
α-Glucosidase from Saccharomyces cerevisiae, recombinant, expressed in proprietary host, lyophilized powder, ≥100 units/mg protein
Sigma-Aldrich
Glycogen from bovine liver, ≥85%
Sigma-Aldrich
Glycogen from Mytilus edulis (Blue mussel), for DNA precipitations
Sigma-Aldrich
Glycogen from rabbit liver, ≥85% dry basis (enzymatic)
Sigma-Aldrich
Glycogen from Mytilus edulis (Blue mussel), ≥85%
Sigma-Aldrich
α-Glucosidase from Bacillus stearothermophilus, lyophilized powder, ≥50 units/mg protein
Sigma-Aldrich
α-Glucosidase from rice, Type V, ammonium sulfate suspension, 40-80 units/mg protein
Sigma-Aldrich
Glycogen from oyster, Type XI