Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro

Disease Models & Mechanisms
Noemi de LunaTomàs Pinós

Abstract

McArdle disease, also termed 'glycogen storage disease type V', is a disorder of skeletal muscle carbohydrate metabolism caused by inherited deficiency of the muscle-specific isoform of glycogen phosphorylase (GP-MM). It is an autosomic recessive disorder that is caused by mutations in the PYGM gene and typically presents with exercise intolerance, i.e. episodes of early exertional fatigue frequently accompanied by rhabdomyolysis and myoglobinuria. Muscle biopsies from affected individuals contain subsarcolemmal deposits of glycogen. Besides GP-MM, two other GP isoforms have been described: the liver (GP-LL) and brain (GP-BB) isoforms, which are encoded by the PYGL and PYGB genes, respectively; GP-BB is the main GP isoform found in human and rat foetal tissues, including the muscle, although its postnatal expression is dramatically reduced in the vast majority of differentiated tissues with the exception of brain and heart, where it remains as the major isoform. We developed a cell culture model from knock-in McArdle mice that mimics the glycogen accumulation and GP-MM deficiency observed in skeletal muscle from individuals with McArdle disease. We treated mouse primary skeletal muscle cultures in vitro with sodium valproate (V...Continue Reading

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Citations

Feb 18, 2016·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Christos E Zois, Adrian L Harris
Apr 1, 2016·Journal of Neuropathology and Experimental Neurology·Thomas O KragJohn Vissing
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Dec 19, 2019·Disease Models & Mechanisms·Guillermo TarrasóTomàs Pinós
Jun 13, 2020·Orphanet Journal of Rare Diseases·Marwa AbdelhakimRobert Hoehndorf
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Dec 23, 2020·International Journal of Molecular Sciences·Aitana Almodóvar-PayáTomàs Pinós
Oct 7, 2015·Disease Models & Mechanisms·Matthew D BreyerAlessandra Cifra

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Methods Mentioned

BETA
biopsies
transfection
histone acetylation
PCR

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