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- W2891869829 abstract "Glycogen storage disease type XV (GSD15) is caused by mutations in the GYG1 gene, which encodes glycogenin-1, a primer for biosynthesis of glycogen. Patients with GYG1-mutations are characterized by either absent or non-functional glycogenin-1, and storage of glycogen or polyglucosan in skeletal muscle. There is also storage in the heart in some patients with cardiomyopathy. Despite the fact that glycogenin-1 is considered to be required for glycogen synthesis, glycogen is present in muscles of glycogenin-1 deficient patients. A role of glycogenin-2 as an alternative primer for glycogen synthesis has been suggested. While glycogenin-1 is ubiquitously expressed, glycogenin-2 is mainly expressed in the liver. To investigate the importance of glycogenin-1 and the role of glycogenin-2, we performed western blot analyses, mass spectrometry, and immunohistochemistry on tissue specimens from GYG1-mutated patients and controls. Expression of both glycogenin-1 and glycogenin-2 was present in control liver specimens, but only glycogenin-1 was identified in heart and skeletal muscle of controls. In patients with truncating GYG1-mutations neither glycogenin-1 nor glycogenin-2 was expressed in skeletal muscle. However, glycogenin-1 but not glycogenin-2 was identified in the heart of patients with cardiomyopathy due to GYG1 missense mutations. Immunohistochemistry demonstrated that glycogenin-1 was localised to the storage of glycogen or polyglucosan in cardiomyocytes. In conclusion, glycogen can be synthesised in the absence of glycogenin-1 and up-regulation of glycogenin-2 does not compensate for glycogenin-1 deficiency. Absence of glycogenin-1 leads to accumulation of glycogen and polyglucosan in skeletal muscle fibers. Expression of glycogenin-1 with missense mutations is deleterious to the heart and leads to storage of glycogenin-1 and abnormal glycogen." @default.
- W2891869829 created "2018-09-27" @default.
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- W2891869829 date "2018-10-01" @default.
- W2891869829 modified "2023-09-26" @default.
- W2891869829 title "METABOLIC MYOPATHIES II" @default.
- W2891869829 doi "https://doi.org/10.1016/j.nmd.2018.06.405" @default.
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