| Autor: |
Geel TM; Department of Pathology and Laboratory Medicine, Groningen University Institute for Drug Exploration , University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. t.m.geel@med.umcg.nl, McLaughlin PM, de Leij LF, Ruiters MH, Niezen-Koning KE |
| Jazyk: |
angličtina |
| Zdroj: |
Molecular genetics and metabolism [Mol Genet Metab] 2007 Dec; Vol. 92 (4), pp. 299-307. Date of Electronic Publication: 2007 Sep 07. |
| DOI: |
10.1016/j.ymgme.2007.07.009 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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