Activation of glycolysis and apoptosis in glycogen storage disease type Ia

被引：17

作者：

Sun, Baodong ^{[1
]}

Li, Songtao ^{[1
]}

Yang, Liu ^{[2
]}

Damodaran, Tirupapuliyur ^{[1
]}

Desai, Dev ^{[3
]}

Diehl, Anna Mae ^{[2
]}

Alzate, Oscar ^{[4
]}

Koeberl, Dwight D. ^{[1
]}

机构：

[1] Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA

[2] Duke Univ, Med Ctr, Dept Med, Div Gastroenterol, Durham, NC 27710 USA

[3] Childrens Med Ctr, Dept Surg, Dallas, TX 75235 USA

[4] Duke Univ, Med Ctr, Dept Med, Div Nephrol, Durham, NC 27710 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2009年 / 97卷 / 04期

关键词：

Glucose-6-phosphatase; von Gierke disease; Inherited disorder of metabolism; Glyceraldehyde-3-phosphate dehydrogenase; Apoptosis; Glycogen storage disease; Fatty liver; Gene therapy; HUMAN HEPATOCELLULAR-CARCINOMA; GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE; NUCLEAR TRANSLOCATION; LIVER; PROTEIN; THERAPY; MICE; IDENTIFICATION; DYSFUNCTION; EXPRESSION;

D O I：

10.1016/j.ymgme.2009.04.003

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The deficiency of glucose-6-phosphatase (G6Pase) underlies glycogen storage disease type Ia (GSD-Ia, von Gierke disease; MIM 232200), an autosomal recessive disorder of metabolism associated with life-threatening hypoglycemia, growth retardation, renal failure, hepatic adenomas, and hepatocellular carcinoma. Liver involvement includes the massive accumulation of glycogen and lipids due to accumulated glucose-6-phosphate and glycolytic intermediates. Proteomic analysis revealed elevations in glyceraldehyde-3-phosphate dehydrogenase (GAPDH) and other enzymes involved in glycolysis. GAPDH was markedly increased in murine G6Pase-deficient hepatocytes. The moonlighting role of GAPDH includes increasing apoptosis, which was demonstrated by increased TUNEL assay positivity and caspase 3 activation in the murine GSD-Ia liver. These analyses of hepatic involvement in GSD-Ia mice have implicated the induction of apoptosis in the pathobiology of GSD-Ia. (C) 2009 Elsevier Inc. All rights reserved.

引用

页码：267 / 271

页数：5

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