Large animal models and new therapies for glycogen storage disease

Brooks, Elizabeth D.; Koeberl, Dwight D.

doi:10.1007/s10545-014-9766-8

Cited by 10 publications

(4 citation statements)

References 29 publications

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“…20-22 And nowadays, gene therapy for GSD is studied more and more in animal models, and it shows the possibility to figure out the pathophysiology of hepatic adenoma and HCC development in GSD and also the possibility of important role for the treatment of GSD. 23 Little is known about HCC occurrence in patients with GSD, and, to our knowledge, there has been no cohort study about the incidence rate of HCC from hepatic adenoma in patients with GSD, except for a few case series. One case series study reported an incidence of HCC from hepatic adenoma of 11% (4 of 36).…”

Section: Hepatic Adenoma In Glycogen Storage Diseasementioning

confidence: 99%

Development of Hepatocellular Carcinoma in Patients with Glycogen Storage Disease: a Single Center Retrospective Study

Jang

Yang

et al. 2020

J Korean Med Sci

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Background: Glycogen storage disease (GSD) is an inherited disorder leading to abnormal glucose metabolism and glycogen accumulation, and is associated with various complications including hepatic adenoma and hepatocellular carcinoma. The aim of this study was to analyze the risk factors for hepatic adenoma and its malignant change, and the hepatocellular carcinoma-free survival rate in patients with GSD who developed adenoma. Methods: A total of 72 patients with GSD who were enrolled from March 1982 to September 2013 at Seoul National University Children's Hospital were retrospectively analyzed, and the median follow-up period was 19.2 years. Results: Thirty-two patients (44.4%) developed hepatic adenoma at an age range of 7.9-26.3 years (median, 14.3 years). Among the 32 patients with hepatic adenoma, 4 patients (12.5%) developed hepatocellular carcinoma on an average interval of 6.7 years between the diagnosis of adenoma and the development of hepatocellular carcinoma. GSD type I and portacaval shunt operation were found to be the risk factors for hepatic adenoma development. The hepatocellular carcinoma-free survival rate at 10 years from adenoma development was 82%. Conclusion:The present study found that portacaval shunt operation increases the risk of development of hepatic adenoma in GSD patients, especially in GSD type I. The hepatic adenoma in GSD patients has a potential of malignant transformation, which should be keep in mind in follow-up process of the disease.

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Section: Hepatic Adenoma In Glycogen Storage Diseasementioning

confidence: 99%

Development of Hepatocellular Carcinoma in Patients with Glycogen Storage Disease: a Single Center Retrospective Study

Jang

Yang

et al. 2020

J Korean Med Sci

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“…By contrast, in the McArdle bovine and ovine models, muscle glycogen concentrations are 1.6 and 2.2 times higher, respectively, than in control animals [ 46 , 88 ]. In this regard, large animals such as cows and sheep represent better models to reproduce disease phenotypes than small models, as they show similarities with regard to humans in organ and body size, muscle bulk, and overall physio-pathological and metabolic characteristics [ 89 ]. In particular, the ovine model presents a body and muscle mass throughout life that is similar to humans [ 74 ].…”

Section: Critical Discussionmentioning

confidence: 99%

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies

Villarreal-Salazar

Brull

Nogales‐Gadea

et al. 2021

Genes

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McArdle disease is an autosomal recessive disorder of muscle glycogen metabolism caused by pathogenic mutations in the PYGM gene, which encodes the skeletal muscle-specific isoform of glycogen phosphorylase. Clinical symptoms are mainly characterized by transient acute “crises” of early fatigue, myalgia and contractures, which can be accompanied by rhabdomyolysis. Owing to the difficulty of performing mechanistic studies in patients that often rely on invasive techniques, preclinical models have been used for decades, thereby contributing to gain insight into the pathophysiology and pathobiology of human diseases. In the present work, we describe the existing in vitro and in vivo preclinical models for McArdle disease and review the insights these models have provided. In addition, despite presenting some differences with the typical patient’s phenotype, these models allow for a deep study of the different features of the disease while representing a necessary preclinical step to assess the efficacy and safety of possible treatments before they are tested in patients.

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“…On the other hand, large animal models present similar glycogen levels to GSD patients, e.g., the McArdle ovine model glycogen levels are 2–5 times higher than WT cows [ 257 ]. Overall, sheep, cattle or horses (5 out of 15 of naturally-occurring GSD models) constitute a better model to reproduce human disease phenotypes than small models such as quails, cats and dogs (the remaining 10 out of 15 naturally-occurring GSD models) or rodents (25 out of 26 genetically modified GSD models), as they present closer similarities in organs and body size, muscle bulk and overall physio-pathologic and metabolic characteristics [ 258 ]. However, there are intrinsic difficulties in working with large animal models compared with small models, such as manipulation, phenotype characterization (e.g., exercise testing), breeding, housing costs and space availability, and the capacity to be shared among different research groups.…”

Section: Critical Discussionmentioning

confidence: 99%

Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

Almodóvar-Payá

Villarreal-Salazar

Luna

et al. 2020

IJMS

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GSD are a group of disorders characterized by a defect in gene expression of specific enzymes involved in glycogen breakdown or synthesis, commonly resulting in the accumulation of glycogen in various tissues (primarily the liver and skeletal muscle). Several different GSD animal models have been found to naturally present spontaneous mutations and others have been developed and characterized in order to further understand the physiopathology of these diseases and as a useful tool to evaluate potential therapeutic strategies. In the present work we have reviewed a total of 42 different animal models of GSD, including 26 genetically modified mouse models, 15 naturally occurring models (encompassing quails, cats, dogs, sheep, cattle and horses), and one genetically modified zebrafish model. To our knowledge, this is the most complete list of GSD animal models ever reviewed. Importantly, when all these animal models are analyzed together, we can observe some common traits, as well as model specific differences, that would be overlooked if each model was only studied in the context of a given GSD.

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Large animal models and new therapies for glycogen storage disease

Cited by 10 publications

References 29 publications

Development of Hepatocellular Carcinoma in Patients with Glycogen Storage Disease: a Single Center Retrospective Study

Development of Hepatocellular Carcinoma in Patients with Glycogen Storage Disease: a Single Center Retrospective Study

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies

Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

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