Lysosomal Storage Disorders

Barranger, John A.; Cabrera-Salazar, Mario A.

doi:10.1007/978-0-387-70909-3

Cited by 25 publications

(101 citation statements)

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“…This practical first-line screening test provides an important guide for further lysosomal enzyme activities based on fluorometric, radiometric, immunochemical protein filing, and electrospray ionization tandem mass spectrometric assays. 10 Glycosaminoglycan electrophoresis is a very valuable and a cost-effective test to screen and rule out MPS disorders if the test can be accurately adjusted in the laboratory. In this short original article, it is stated that an effective and efficient buffer pH, molarity of the BaAc together with optimized time of electrophoresis under steady low temperature 8 C to 11 C, supported by Peltiers will generally give you reproducible, clear-cut results in every analytical run.…”

Section: Resultsmentioning

confidence: 99%

Urinary Glycosaminoglycan Electrophoresis With Optimized Keratan Sulfate Separation Using Peltier System for the Screening of Mucopolysaccharidoses

Tanyalcin¹

2015

Journal of Inborn Errors of Metabolism and Screening

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The purpose of this communication is to indicate a simple and rapid method with a small volume of urine sample to detect urine glycosaminoglycan (GAG) and serve as a screening procedure for mucopolysaccharidoses (MPSs). Total GAG measurement for patients with MPS disorders is considered to be the first step in diagnosis of those heterogeneous group of lysosomal storage disorders presenting clinical phenotype. In this study, modified 9-dimethylmethylene blue method is used for total GAG measurement. Following GAG quantitation, the procedure described here allows GAG isolation from a very a small volume of urine sample and subjected to high-resolution GAG electrophoresis, which can be easily performed in routine clinical diagnostic laboratories. Glycosaminoglycan precipitation is a modified method based on total GAG concentration in the urine. For optimized isolation of total GAG for electrophoresis, instead of considering the urine creatinine concentration, 300 μg/mL GAG containing urine is considered to be the target concentration for the best precipitation with 1000 μL cetylpyridinium chloride (CPC)/citrate buffer. Glycosaminoglycan concentration-based precipitation of urine with CPC allows the laboratory to be able to work with a small volume of urine sample by keeping the precipitating ratio with CPC constant for samples that contain GAG less than 300 μg/mL. Based on the effect of cold buffer using low voltage, GAGs high-resolution electrophoresis banding patterns described here enable a clear separation of keratan sulfate from chondroitin sulfate as well as dermatan sulfate (DS1 and DS2) and heparan sulfate. By this procedure, GAG patterns are more clear, easily identified, and provide a guide for the enzyme analysis deficient in the MPS disorders.

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Section: Resultsmentioning

confidence: 99%

Urinary Glycosaminoglycan Electrophoresis With Optimized Keratan Sulfate Separation Using Peltier System for the Screening of Mucopolysaccharidoses

Tanyalcin¹

2015

Journal of Inborn Errors of Metabolism and Screening

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“…Прогрессирующее накопление гликозаминогликанов в различных тканях и органах ведет к разнообразным клиническим проявлениям и, в конечном итоге, к инвалидизации и преждевремен-ной смерти пациентов [1,2].…”

Section: обоснованиеunclassified

“…Поражения ЛОР-органов и дыхательных путей явля-ются частыми и нередко манифестными клиническими проявлениями МПС [1,3], в основном I, II и VI типов [2,3], с характерным увеличением в размерах языка, постоянными обильными выделениями из носа, хрони-ческими и рецидивирующими инфекциями дыхатель-ных путей, среднего уха, хроническим риносинуситом, обструкцией верхних дыхательных путей, гипертрофией миндалин и аденоидов, утолщением голосовых связок, стридором, сужением трахеи, трахеобронхомаляцией, рестриктивной болезнью легких, снижением слуха [3][4][5]. Увеличение аденоидов, миндалин и/или языка может препятствовать полноценной координации акта глота-ния [6].…”

Section: обоснованиеunclassified

The Impact of Enzyme-Replacement Therapy on Upper Airway Obstruction in Children with Mucopolysaccharidoses: Retrospective Cohort Study

Osipova¹,

Kuzenkova²,

Намазова-Баранова³

et al. 2018

Pediatr. farmakol.

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Обоснование. Данные об эффективности ферментозаместительной терапии (ФЗТ) в отношении патологии ЛОР-органов и показателей дыхания во сне у детей с мукополисахаридозом (МПС) в литературе представлены скудно. Цель исследования -оценить влияние ФЗТ на состояние верхних дыхательных путей у детей с МПС. Методы. По историям болезни изучали результаты лечения детей с МПС I и II типов, получавших ФЗТ в Научном центре здоро-вья детей (ныне ФГАУ« (1,3; 7,7), при повторном исследовании -2,6 (0,9; 13,5) (р=0,507

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“…Lysosomal storage diseases (LSDs) are inherited metabolic disorders caused by mutations in genes coding for: (i) proteins that hydrolyze compounds that are transported into the lysosomes or appear in the lysosomes as a result of fusion with autophagic vacuoles or endocytic vesicles, (ii) proteins that are needed for the activity of the hydrolases mentioned above, such as the saponins, (iii) proteins that are needed for lysosomal transport (1,2). There are more than 50 different LSDs identified to date.…”

Section: Introductionmentioning

confidence: 99%

“…This leads to dysfunctions of cells, tissues, and organs. Attempts are made to treat lysosomal storage diseases by enzyme replacement and substrate reduction therapies, as well as other potential therapies which are being developed (2)(3)(4)(5)(6).…”

Section: Introductionmentioning

confidence: 99%

Gene expression‐targeted isoflavone therapy

Węgrzyn

2012

IUBMB Life

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SummaryLysosomal storage diseases (LSD) form a group of inherited metabolic disorders caused by dysfunction of one of the lysosomal proteins, resulting in the accumulation of certain compounds. Although these disorders are among first genetic diseases for which specific treatments were proposed, there are still serious unsolved problems that require development of novel therapeutic procedures. An example is neuronopathy, which develops in most of LSD and cannot be treated efficiently by currently approved therapies. Recently, a new potential therapy, called gene expression-targeted isoflavone therapy (GET IT), has been proposed for a group of LSD named mucopolysaccharidoses (MPS), in which storage of incompletely degraded glycosaminoglycans (GAGs) results in severe symptoms of virtually all tissues and organs, including central nervous system. The idea of this therapy is to inhibit synthesis of GAGs by modulating expression of genes coding for enzymes involved in synthesis of these compounds. Such a modulation is possible by using isoflavones, particularly genistein, which interfere with a signal transduction process necessary for stimulation of expression of certain genes. Results of in vitro experiments and studies on animal models indicated a high efficiency of GET IT, including correction of behavior of affected mice. However, clinical trials, performed with soy isoflavone extracts, revealed only limited efficacy. This caused a controversy about GET IT as a potential, effective treatment of patients suffering from MPS, especially neuronopathic forms of these diseases. It this critical review, I present possible molecular mechanisms of therapeutic action of isoflavones (particularly genistein) and suggest that efficacy of GET IT might be sufficiently high when using relatively high doses of synthetic genistein (which was employed in experiments on cell cultures and mouse models) rather than low doses of soy isoflavone extracts (which were used in clinical trials). This proposal can be tested in double-blinded, placebo-controlled clinical trials.2012 IUBMB IUBMB Life, 64(4): [307][308][309][310][311][312][313][314][315] 2012

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Lysosomal Storage Disorders

Cited by 25 publications

References 0 publications

Urinary Glycosaminoglycan Electrophoresis With Optimized Keratan Sulfate Separation Using Peltier System for the Screening of Mucopolysaccharidoses

Urinary Glycosaminoglycan Electrophoresis With Optimized Keratan Sulfate Separation Using Peltier System for the Screening of Mucopolysaccharidoses

The Impact of Enzyme-Replacement Therapy on Upper Airway Obstruction in Children with Mucopolysaccharidoses: Retrospective Cohort Study

Gene expression‐targeted isoflavone therapy

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