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Treatment of glycogen storage disease iii

A nucleic acid sequence and encoding technology, applied in gene therapy, viruses, metabolic diseases, etc., can solve problems such as lack of systematic research

Pending Publication Date: 2020-03-24
GENETHON +3
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Temporary improvement in symptoms has been documented in some patients, but there are no systematic studies or long-term data demonstrating that high-protein diets prevent or treat progressive myopathy (Kishnani et al., 2010, Genet Med 12, 446-463)

Method used

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  • Treatment of glycogen storage disease iii
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  • Treatment of glycogen storage disease iii

Examples

Experimental program
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Embodiment

[0199] The present invention is described in further detail by referring to the following experimental examples and accompanying drawings. These examples are provided for illustrative purposes only and are not intended to be limiting.

[0200] Materials and methods

[0201] Glycogen content

[0202] Glycogen content was measured indirectly as glucose released after complete digestion with amyloglucosidase. Released glucose was determined using a glucose assay kit by measuring absorbance at 540 nm using an EnSpire alpha plate reader.

[0203] Western blot analysis

[0204] Mouse tissues were prepared as previously described (Amalfitano et al., PNAS 1999). Briefly, 50-100 mg of tissue was weighed and homogenized in DNAse / RNAse-free water, then centrifuged at 10,000 x g for 20 minutes. The supernatant was used in the next step. Protein concentrations were determined using the BCA protein assay. SDS-page electrophoresis was performed on a 4-15% gradient polyacrylamide gel. ...

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PUM

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Abstract

The present invention relates to vectors and compositions for the treatment of glycogen storage disease III.

Description

technical field [0001] The present invention relates to the treatment of glycogen storage disease III (GSDIII). Background technique [0002] Genetic deficiency of glycogen debranching enzyme (GDE) in glycogen storage disease III (GSD III) causes incomplete glycogenolysis, resulting in abnormal glycogen with short external chains in various organs, mainly the liver and Accumulation in muscle. The disease is characterized by hepatomegaly, hypoglycemia, short stature, variable myopathy, and cardiomyopathy. Most patients have disease involving both liver and muscle (type IIIa), while some patients (-15%) involve only the liver (type IIIb). Liver symptoms usually appear in childhood. Cirrhosis and hepatocellular carcinoma have been reported in some cases (Chen et al., 2009, Scriver's Online Metabolic & Molecular Bases of Inherited Disease, NewYork: McGraw-Hill; Kishnani et al., 2010, Genet Med 12, 446-463). Muscle weakness may appear in childhood. It becomes more common in...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N9/24C12N9/10A01K67/027C12N15/86A61K48/00
CPCA01K67/0276A61K48/005C12N9/1051C12N9/2402C12N15/86A01K2217/075A01K2227/105A01K2267/0362C12N2750/14143C12N2800/40A61P3/08A61K48/0033A61K48/0066C12N7/00C12N9/16C12N2750/14121C12N2750/14132C12N2750/14145C12Y301/03001
Inventor 费德里克·敏果兹基斯配·罗兹提帕特里斯·维达尔
Owner GENETHON
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