Glycogen storage disease type 1b due to a defect of glucose‐6‐phosphate translocase

Narisawa, Kuniaki; Otomo, Hiromi; Igarashi, Yutaka; Arai, Noriyuki; Otake, Masatoshi; Tada, Keiya; Kuzuya, Tsunehiko

doi:10.1007/bf02179148

Cited by 6 publications

(3 citation statements)

References 11 publications

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“…Of the four Slc37a proteins, only Slc37a4, also known as the microsomal glucose-6-phosphate translocase 1 (G6PT1), has been studied in detail and has been empirically demonstrated to possess transporter function (18). Defects in Slc37a4/G6PT1 are responsible for glycogen storage disease type Ib (GSD-Ib) (26,43). GSD-Ib patients show disrupted glucose homeostasis and immune system complications of intermittent neutropenia and defects in neutrophil respiratory burst and chemotaxis (18,40).…”

Section: Discussionmentioning

confidence: 99%

The major facilitator superfamily member Slc37a2 is a novel macrophage- specific gene selectively expressed in obese white adipose tissue

Kim¹,

Tillison²,

Zhou³

et al. 2007

American Journal of Physiology-Endocrinology and Metabolism

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Smas CM. The major facilitator superfamily member Slc37a2 is a novel macrophage-specific gene selectively expressed in obese white adipose tissue. Am J Physiol Endocrinol Metab 293: E110-E120, 2007. First published March 13, 2007; doi:10.1152/ajpendo.00404.2006.-A marked degree of macrophage infiltration of white adipose tissue (WAT) occurs in obesity and may link excess adiposity with the chronic inflammatory state underlying metabolic syndrome and other comorbidities of obesity. Excess deposition of fat in the intra-abdominal vs. subcutaneous WAT depots is a key component of metabolic syndrome. Through construction and differential screening of a murine ob/ob WAT cDNA library, we identified Slc37a2, a novel sugar transporter of the major facilitator superfamily, to be twofold enriched in intra-abdominal vs. subcutaneous fat. We find Slc37a2 is a macrophage-enriched transcript. In murine tissues, Slc37a2 transcript is restricted to spleen, thymus, and obese WAT. It is also readily detected in the RAW264.7 macrophage cell line and increases 46-fold during macrophage differentiation of THP-1 human monocytes. Compared with wildtype mice, Slc37a2 transcript is increased epididymal ninefold in ob/ob WAT and assessment of expression of the macrophage marker emr1 indicated upregulation of Slc37a2 transcript in macrophages populating ob/ob WAT. Studies with PNGase F and tunicamycin reveal the Slc37a2 protein is posttranslationally modified by addition of N-linked glycans. Slc37a2 protein migrates as heterogeneous species of ϳ50 -75 kDa and its ectopic expression in mammalian cells results in the appearance of large intracellular vacuoles. We postulate that the function of this macrophagespecific putative sugar transporter is central to the metabolism of the macrophage population specifically present in obese WAT. obesity; sugar transporter WHITE ADIPOSE TISSUE (WAT) is recognized to have multiple functions that are not only related to the storage of excess energy intake and its mobilization but also the secretion of hormones and adipokines (2,13,21,29). Obesity is related to a number of health risks including insulin resistance, type 2 diabetes, cardiovascular disease, and some types of cancers (1,12,57). Studies to date indicate that different WAT depots evidence distinctions in, for example, gene expression and lipolytic response, among others (16,27,34,35,42,50,(52)(53)(54)(55). A relationship between the regional distribution of body fat and the comorbidities of obesity has recently been recognized. Intra-abdominal adiposity correlates with obesityassociated disorders, for example the metabolic syndrome, to a higher degree than the accumulation of fat in the subcutaneous WAT depots (7,27). Interventions that target reduction of intra-abdominal fat mass effectively combat obesity-related diseases (24).

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Section: Discussionmentioning

confidence: 99%

The major facilitator superfamily member Slc37a2 is a novel macrophage- specific gene selectively expressed in obese white adipose tissue

Kim¹,

Tillison²,

Zhou³

et al. 2007

American Journal of Physiology-Endocrinology and Metabolism

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“…It results from mutation of G6PT1 gene ( SLC37A4 ), located on chromosome 11q23, which encodes glucose-6-phosphate translocase. It was first described by Senior and Loridan in 1968, as a functional deficiency of glucose-6-phosphatase,1 leading to increased glycogen accumulation in liver and kidneys, further leading to enlargement.…”

Section: Descriptionmentioning

confidence: 99%

Hepatomegaly with neutropenia: a girl with glycogen storage disease Ib

Bhattacharya

Panigrahi

et al. 2019

BMJ Case Rep

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DesCripTionA 15-month-old girl, born to a second-degree consanguineous marriage, presented with history of recurrent respiratory tract infections over past 6 months, which required in-hospital treatment with intravenous antibiotics and respiratory support. There was no history of diarrhoea, ear or skin infections or failure to gain weight. There was history of hypoglycaemic seizures in neonatal period and he expired due to sepsis at 8 months of age.On examination, she was a well-thriving child with sparse hypopigmented hair (figure 1A). Her abdomen was distended with firm hepatomegaly (span 15 cm), without any evidence of splenic enlargement or free fluid. Rest of systemic examination was unremarkable.Investigations revealed neutropenia (haemoglobin 87 g/L, total leucocyte count (TLC) 6.7x10 9 /L, absolute neutrophil count (ANC) 871/ mm 3 , platelet count 306x10 9 /L) and elevated transaminases: aspartate aminotransferase (AST) 248 IU/L and alanine aminotransferase (ALT) 128 IU/L respectively. He also had hyperlipidaemia (serum cholesterol 332 mg/dL, triglycerides 1845 mg/dL), hyperuricaemia (7.8 mg/dL) and elevated lactate (4.7 mmol/L) levels. Ultrasound of abdomen revealed enlarged liver (15.3 cm) as well as kidneys (8.5 cm). Hair microscopy was unremarkable, and workup for immunodeficiency (primary and secondary) was negative.

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“…These com ponents respond independently to age, thy roid hormone and triamcinolone [10,11]. Assays of microsomes from liver biopsy specimens of patients with type lb glycogen storage disease suggest the presence of a func tional hydrolase but a defect in the translocase component of glucose-6-phosphatase [12], This is particularly interesting due to the abnormally high incidence of hepatic tu mors in patients with this disease [13]. Most of the reports showing a decrease in glucose-6-phosphatase activity during hepatocarcinogenesis have been limited to qualitative anal yses (i.e., histochemical) or quantitative stud ies using only intact microsomes [5,7,14].…”

Section: Introductionmentioning

confidence: 99%

Effect of Morris 7777 Hepatoma on Microsomal Glucose-6-Phosphatase Latent Activity

Dobrosielski-Vergona¹

1984

Enzyme

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The change in the activity of several hepatic enzymes during hepatocarcinogenesis suggests a pattern of dedifferentiation. This category of enzymes includes glucose-6-phosphatase and γ-glutamyltranspeptidase (GGT). A detailed kinetic analysis of microsomal glucose- 6-phosphatase activity revealed that both the translocase and phosphohydrolase activities were markedly reduced in Morris 7777 hepatoma transplanted in male Buffalo rats. In addition, the activity of the translocase component increased 2.4-fold, while the phosphohydrolase activity decreased 1.6-fold in the liver of tumor-bearing animals. GGT activity in the host liver was not effected by the presence of the tumor. These results suggest differences in the effect of Morris 7777 hepatoma on: (a) the phosphohydrolase and translocase activities of microsomal glucose-6-phosphatase and (b) the sensitivity of glucose-6-phosphatase and GGT activities in the host liver.

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Glycogen storage disease type 1b due to a defect of glucose‐6‐phosphate translocase

Cited by 6 publications

References 11 publications

The major facilitator superfamily member Slc37a2 is a novel macrophage- specific gene selectively expressed in obese white adipose tissue

The major facilitator superfamily member Slc37a2 is a novel macrophage- specific gene selectively expressed in obese white adipose tissue

Hepatomegaly with neutropenia: a girl with glycogen storage disease Ib

Effect of Morris 7777 Hepatoma on Microsomal Glucose-6-Phosphatase Latent Activity

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