Pompe disease: Current state of treatment modalities and animal models
| Autor: | L. de Leij, T. M. Geel, K. E. Niezen-Koning, Pmj McLaughlin, Marcel H. J. Ruiters |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
Endocrinology
Diabetes and Metabolism Genetic enhancement GENOTYPE-PHENOTYPE CORRELATION LYSOSOMAL STORAGE DISEASE Disease Biology RABBIT MILK Bioinformatics gene correction therapy ENZYME REPLACEMENT THERAPY Biochemistry Mice Endocrinology In vivo KO mouse models Genetics Lysosomal storage disease medicine Animals Humans alpha-glucosidase GAA Molecular Biology Mice Knockout HIGH-LEVEL PRODUCTION Glycogen Storage Disease Type II Therapies Investigational Organ dysfunction GENE-THERAPY Pompe disease alpha-Glucosidases Genetic Therapy Enzyme replacement therapy medicine.disease gene therapy ZINC-FINGER NUCLEASES MALTASE DEFICIENCY Disease Models Animal Knockout mouse Acid alpha-glucosidase GLYCOGENOSIS TYPE-II Glucan 1 4-alpha-Glucosidase medicine.symptom ACID-ALPHA-GLUCOSIDASE |
| Zdroj: | Molecular Genetics and Metabolism. 92:299-307 |
| ISSN: | 1096-7192 |
| Popis: | Pompe disease is a rare autosomal recessive lysosomal storage disease caused by deficiency of acid-alpha-glucosidase (GAA). This deficiency results in glycogen accumulation in the lysosomes, leading to lysosomal swelling, cellular damage and organ dysfunction. In early-onset patients (the classical infantile form and juvenile form) this glycogen accumulation leads to death. The only therapy clinically available is enzyme replacement therapy, which compensates for the missing enzyme by i.v. administration of recombinant produced enzyme. The development of clinically relevant animal models gained more insight in the disease and allowed evaluation of recombinant enzyme therapy. Several therapies are currently under investigation for Pompe disease, including gene therapy. This review gives an overview of the available knockout mouse models, of the in vitro and in vivo studies performed using recombinant produced enzyme. Furthermore, it describes current therapeutic approaches for Pompe disease as well as experimental therapies like gene correction therapy. (c) 2007 Elsevier Inc. All rights reserved. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect