AI Article Synopsis
- Biomedical advances since the Coris' discovery of phosphorylase in the 1940s and McArdle's reporting of a glycogen breakdown disorder in 1951 have led to the identification of McArdle disease, caused by a deficiency of muscle glycogen phosphorylase (GP).
- The review discusses key aspects of the disease's 'pathogenomics,' including mutation spectra in the PYGM gene that encodes muscle GP and the interactions between different GP isoforms in tissues.
- It also explores insights gained from both natural and lab-generated animal models, as well as potential therapeutic approaches for McArdle disease.
Article Abstract
Numerous biomedical advances have been made since Carl and Gerty Cori discovered the enzyme phosphorylase in the 1940s and the Scottish physician Brian McArdle reported in 1951 a previously 'undescribed disorder characterized by a gross failure of the breakdown in muscle of glycogen'. Today we know that this disorder, commonly known as 'McArdle disease', is caused by inherited deficiency of the muscle isoform of glycogen phosphorylase (GP). Here we review the main aspects of the 'pathogenomics' of this disease including, among others: the spectrum of mutations in the gene (PYGM) encoding muscle GP; the interplay between the different tissue GP isoforms in cellular cultures and in patients; what can we learn from naturally occurring and recently laboratory-generated animal models of the disease; and potential therapies.
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| http://dx.doi.org/10.1007/s10545-014-9743-2 | DOI Listing |
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