Sulphated acid mucopolysaccharides in SV40-transformed human cells from normal and mucopolysaccharidosis patients.
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Lines of fibroblasts have been established from normal individuals and from patients diagnosed as suffering from one of the mucopolysaccharidoses or mucopolysaccharide-storage diseases. Transformation of these lines with SV40 virus has been found to reduce their capacity to secrete sulphated mucopolysaccharides into the growth medium. No differences were detected between the individual cell types in their secretory capacity, either before or after viral transformation. A direct relationship was found to exist between the rate of acid mucopolysaccharide production and cell-doubling time. The level of sulphated mucopolysaccharide detected within the cell was also reduced for all cell types after transformation by SV40. Transformed fibroblasts from mucopolysaccharidosis patients, however, showed a relatively greater reduction in storage capacity than those derived from normal individuals. (+info)
Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses.
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alpha-L-Iduronidase activity in established lymphoblastoid cells from patients with Hurler and Scheie syndromes transformed by Epstein-Barr virus.
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alpha-L-Iduronidase activity was determined in established lymphoblastoid cells, which were transformed in vitro by Epstein-Barr virus, of lymphocytes-rich cell populations isolated from peripheral blood of patients with Hurler and Scheie syndromes. alpha-L-Iduronidase activities in established lymphoblastoid cells from patients were undetectable, while activities of control subjects were clearly detected. These results suggest that established lymphoblastoid cells are useful for the enzymatic study of genetic mucopolysaccharidoses. (+info)
Involvement of the Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses.
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Incidence of mucopolysaccharidoses in Tunisia.
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BACKGROUND: The mucopolysaccharidoses (MPS) are a devastating heterogenous group of lysosomal storage disorders. AIM: To evaluate the epidemiological profile of MPS in Tunisia. METHODS: we conducted a retrospective epidemiological survey covering the period 1970-2005. Multiple sources were used to identify affected patients. RESULTS: Ninety six confirmed MPS cases were collected from 132 suspected cases found in the surveyed data. Of the ninety six confirmed cases, 20% were from multiplex families. Consanguinity was found in 83% of the families. The crude rate for all types of mucopolysaccharidoses was 2.3 cases in 100,000 live births. The prevalence of MPS type I, III and IV, those most frequently occurring in the collected data, were estimated at 0.63, 0.7 and 0.45 per 100,000 live births, respectively. The cumulative incidence of MPS type VI (0.3 per 105 live births) was higher than reported in European countries; but, it is likely that... CONCLUSION: The reported frequency of all types of MPS in Tunisia is underestimated. (+info)
Separation of sulfated urinary glycosaminoglycans by high-resolution electrophoresis for isotyping of mucopolysaccharidoses in Malaysia.
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Mucopolysaccharidoses (MPS) are a group of inherited disorders caused by the deficiency of specific lysosomal enzymes involved in glycosaminoglycans (GAGs) degradation. Currently, there are 11 enzyme deficiencies resulting in seven distinct MPS clinical syndromes and their subtypes. Different MPS syndromes cannot be clearly distinguished clinically due to overlapping signs and symptoms. Measurement of GAGs content in urine and separation of GAGs using high-resolution electrophoresis (HRE) are very useful initial screening tests for isotyping of MPS before specific enzyme diagnostics. In this study, we measured total urinary GAGs by a method using dimethylmethylene blue (DMB), and followed by isolation and separation of GAGs using high resolution electrophoresis (HRE) technique. Of 760 urine samples analyzed, 40 have abnormal GAGs HRE patterns. Thirty-five of these 40 cases have elevated urinary GAGs levels as well. These abnormal HRE patterns could be classified into 4 patterns: Pattern A (elevated DS and HS; suggestive of MPS I, II or VII; 16 cases), Pattern B (elevated HS and CS; suggestive of MPS III; 17 cases), and Pattern C (elevated KS and CS; suggestive of MPS IV, 5 cases), and Pattern D (elevated DS; suggestive of MPS VI; 2 cases). Based on the GAGs HRE pattern and a few discriminating clinical signs, we performed selective enzymatic investigation in 16 cases. In all except one case with MPS VII, the enzymatic diagnosis correlated well with the provisional MPS type as suggested by the abnormal HRE pattern. Our results showed that GAGs HRE is a useful, inexpensive and practical first-line screening test when MPS is suspected clinically, and it provides an important guide to further enzymatic studies on a selective basis. (+info)
Diagnosis of caprine mucopolysaccharidosis type IIID by real-time polymerase chain reaction-based genotyping.
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Mucopolysaccharidosis type IIID is caused by a deficiency of N-acetylglucosamine-6-sulfatase, which is one of the enzymes involved in the catabolism of heparin sulfate. Simple molecular marker assays underpin modern routine animal breeding and research activities worldwide. With the rapid growth of single nucleotide polymorphism (SNP) resources for many important animal genetic disorders, the availability of routine assays for genotyping SNPs is of increased importance. In the current study, real-time polymerase chain reaction (PCR) is demonstrated to provide a valuable approach as a rapid and accurate alternative to a previously developed gel-based PCR as a straightforward and efficient assay for the diagnosis of caprine mucopolysaccharidosis IIID. (+info)