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Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.

Journal article
Authors Ali-Reza Moslemi
Christopher Lindberg
Johanna Nilsson
Homa Tajsharghi
Bert Andersson
Anders Oldfors
Published in The New England journal of medicine
Volume 362
Issue 13
Pages 1203-10
ISSN 1533-4406
Publication year 2010
Published at Institute of Neuroscience and Physiology
Institute of Biomedicine, Department of Pathology
Institute of Biomedicine
Institute of Medicine
Pages 1203-10
Language en
Keywords Adult, Arrhythmias, Cardiac, etiology, Codon, Nonsense, DNA, Complementary, analysis, Dizziness, etiology, Female, Glucosyltransferases, deficiency, genetics, Glycogen, biosynthesis, Glycoproteins, deficiency, genetics, Humans, Male, Muscle, Skeletal, chemistry, pathology, Mutation, Missense, Pedigree, RNA, Messenger, analysis, Sequence Analysis, DNA
Subject categories Cell and Molecular Biology


Glycogen, which serves as a major energy reserve in cells, is a large, branched polymer of glucose molecules. We describe a patient who had muscle weakness, associated with the depletion of glycogen in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle showed a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation. Western blotting showed the presence of unglucosylated glycogenin-1 in the muscle and heart. Sequencing of the glycogenin-1 gene, GYG1, revealed a nonsense mutation in one allele and a missense mutation, Thr83Met, in the other. The missense mutation resulted in inactivation of the autoglucosylation of glycogenin-1 that is necessary for the priming of glycogen synthesis in muscle.

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