China
Africa
Explore chapters and articles related to this topic
Sleep-Disordered Breathing in High-Risk Children
Published in Mark A. Richardson, Norman R. Friedman, Clinician’s Guide to Pediatric Sleep Disorders, 2016
Mucopolysaccharidoses are a group of genetic disorders characterized by enzyme deficiencies that lead to defective catabolism of lysosomal glycosaminoglycans and accumulation of mucopolysaccharides in the soft tissues of the body. The specific enzyme deficiency determines the type of mucopolysaccharidosis and includes Hurler and Scheie syndrome (a-L-iduronidase deficiency), Hunter syndrome (iduronate sulfatase deficiency), and Sly syndrome (b-glucuronidase deficiency) (39).
Enzyme replacement combinational therapy: effective treatments for mucopolysaccharidoses
Published in Expert Opinion on Biological Therapy, 2021
Azam Safary, Hakimeh Moghaddas-Sani, Mostafa Akbarzadeh-Khiavi, Alireza Khabbazzi, Mohammad A. Rafi, Yadollah Omidi
The use of enzyme technology for therapeutical purposes dates back to around 40 years ago. The important features of the enzymes (e.g., high affinity, specificity, and functionality of enzymes on their targets) distinguish them from all other types of therapeutical agents [62,63]. For the first time, Christian de Duve in 1964 proposed the replacement of the defective enzymes with their functional forms to restore normal enzymatic activity in the lysosome [64]. The ERT modality was then commercially introduced in the year 2000 for the management of all three subtypes of MPS I, the so-called Hurler (H), Hurler-Scheie (H/S), and Scheie (S) syndromes. Subsequently, ERT modalities became available for the MPS II (Hunter syndrome), MPS VI (Maroteaux-Lamy syndrome), MPS IV A (Morquio A syndrome), and recently for the MPS VII (Sly syndrome) [32].
The potential of gene therapy for mucopolysaccharidosis type I
Published in Expert Opinion on Orphan Drugs, 2020
Luisa Natalia Pimentel Vera, Guilherme Baldo
The capability of this system to treat MPS I mice was first studied in 2007 by Aronovich et al. They proposed the use of this system as a tool for gene therapy of MPS I and VII (Sly syndrome) combined with immunomodulation. In their study, they showed that after a hydrodynamic injection of transposon/transposase plasmid carrying IDUA gene, enzyme activity in plasma reached up to 100-fold wild-type (WT) levels but was maintained for only 4 weeks post-injection in mice that did not receive immunomodulation. It remained high for over 3 months in some of the inmunomodulated ones, and that enzyme levels were enough to correct the pathology in liver and some other organs [64,65]. This strategy was also tested in mesenchymal stem cells from MPS I mice but the outcomes were not as satisfactory [66], as high antibody titer were detected in blood [66]. As an important point to highlight, results did not show any neurological improvement data, possibly because the system is unable to reach the brain tissue.
Enzyme therapy: a forerunner in catalyzing a healthy society?
Published in Expert Opinion on Biological Therapy, 2020
Saptashwa Datta, K Narayanan Rajnish, C George Priya Doss, S. Melvin Samuel, E. Selvarajan, Hatem Zayed
Enzyme replacement therapy was the first publicized use of enzymes for therapeutic purposes. The possibility of using enzymes for the therapy of lysosomal storage diseases was proposed in 1964 by Dr. Christian de Duve [3]. Since its provenance, enzyme replacement therapy has made large strides and is currently used for the treatment of multiple enzyme deficiency disorders, including Gaucher disease [4], Fabry disease [5], Pompe disease [6], Hunter syndrome [7], Hurler–Scheie syndrome [8], Sly syndrome [9], Morquio A syndrome [10], Tay–Sachs disease [11], Wolman disease [12], adenosine deaminase-severe combined immune deficiency [13], hypophosphatasia [14], metachromatic leukodystrophy [15], Sphingomyelinase deficiency [16], homocystinuria [17], Maroteaux–Lamy syndrome [18], alpha-mannosidosis [19] and ceroid lipofuscinosis type 2 [20]. Pancreatic enzyme replacement therapy is a specialized category of replacement therapy using enzymes used for the therapy of exocrine pancreatic insufficiency, which can occur in various diseases, such as cystic fibrosis, chronic pancreatitis, and celiac disease [21]. Moreover, in the modern era, the therapeutic use of enzymes has been further applied for cancer treatment [22], wound healing [23], improving the life of patients suffering from irritable bowel syndrome [24], fighting antibiotic-resistant microbial infections [25] and gene therapy [26]. In this article, we review the properties of various enzymes, along with their efficacy in the treatment of various disorders. The enzymes have been grouped into sections based on the various diseases they are used to treat. This article also provides an update on recent developments in enzyme research and their application as therapeutics.