Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients
نویسندگان
چکیده
منابع مشابه
Evidence of cardiomyocyte necrosis in glycogen storage disease type II.
Adult-onset glycogen storage disease type II (GSD-II), unlike the infantile form, is not normally associated with coexisting cardiovascular pathologies. In infantile onset GSD-II, cardiomyopathy is a common feature, and mutations in the genes for cardiac troponin T and I are likely to be involved. This case report describes a 39-year-old man with no classical risk factors for premature cardiac ...
متن کاملGlycogen storage disease (type-III).
Glycogen storage disease (GSD) type III is caused by deficiency of the enzyme amylo-1,6 glucosidase (debranching enzyme) leading to the storage of an abnormal glycogen with short outer chains called limit dextrins(l). Clinical manifestations are usually due to decreased hepatic glycogenolysis and occasionally due to a myopathy associated with an increase in muscle glycogen. We report a case of ...
متن کاملType V glycogen storage disease.
We describe three children with type V glycogen storage disease, who were reluctant to climb hills. We suggest that this condition, usually described as being of adult onset, can often be diagnosed in childhood.
متن کاملEvaluation of the lumbar spine in patients with glycogen storage disease: CT demonstration of patterns of paraspinal muscle atrophy.
CT studies of the lumbar spine were performed in 19 patients with glycogen storage disease. Nine of 10 patients with McArdle's disease and seven of nine patients with acid maltase deficiency demonstrated posterior paraspinal muscle atrophy out of proportion to their ages. In addition, the psoas muscles were spared in all 10 patients with McArdle's disease and were involved with atrophy in seven...
متن کاملDownregulation of SIRT1 signaling underlies hepatic autophagy impairment in glycogen storage disease type Ia
A deficiency in glucose-6-phosphatase-α (G6Pase-α) in glycogen storage disease type Ia (GSD-Ia) leads to impaired glucose homeostasis and metabolic manifestations including hepatomegaly caused by increased glycogen and neutral fat accumulation. A recent report showed that G6Pase-α deficiency causes impairment in autophagy, a recycling process important for cellular metabolism. However, the mole...
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ژورنال
عنوان ژورنال: Autophagy
سال: 2012
ISSN: 1554-8627,1554-8635
DOI: 10.4161/auto.21691