A simple method for early age phenotype confirmation using toe tissue from a mouse model of MPS IIIA

Trim, Paul J.; Lau, Adeline A.; Hopwood, John J.; Snel, Marten F.

doi:10.1002/rcm.6861

Cited by 26 publications

(28 citation statements)

References 24 publications

(34 reference statements)

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“…Recently, an Australian group reported the synthesis of 12 species of potential HS methanolysates to understand which substance was mainly generated during this process [36]. They found that GlcN-(1→4)-uronic acid disaccharide was the major reaction product of HS methanolysis; in fact, the same conclusion was previously obtained by another study [37]. The authors also argued that butanolysis, rather than methanolysis, provides a much higher yield of methanolysate partly because of higher reaction temperatures.…”

Section: Heparan Sulfatementioning

confidence: 61%

Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry

Mashima

Okuyama

Ohira

2020

IJMS

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Lysosomal storage disorders (LSDs) are characterized by an accumulation of various substances, such as sphingolipids, mucopolysaccharides, and oligosaccharides. The LSD enzymes responsible for the catabolism are active at acidic pH in the lysosomal compartment. In addition to the classically established lysosomal degradation biochemistry, recent data have suggested that lysosome plays a key role in the autophagy where the fusion of autophagosome and lysosome facilitates the degradation of amino acids. A failure in the lysosomal function leads to a variety of manifestations, including neurovisceral disorders. While affected individuals appear to be normal at birth, they gradually become symptomatic in childhood. Biomarkers for each condition have been well-documented and their proper selection helps to perform accurate clinical diagnoses. Based on the natural history of disorders, it is now evident that the existing treatment becomes most effective when initiated during presymptomatic period. Neonatal screening provides such a platform for inborn error of metabolism in general and is now expanding to LSDs as well. These are implemented in some areas and countries, including Taiwan and the U.S. In this short review, we will discuss several issues on some selected biomarkers for LSDs involving Fabry, Niemann–Pick disease type C, mucopolysaccharidosis, and oligosaccharidosis, with a focus on mass spectrometry application to biomarker discovery and detection.

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Section: Heparan Sulfatementioning

confidence: 61%

Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry

Mashima

Okuyama

Ohira

2020

IJMS

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“…Specific disaccharides related to DS and HS were selected, optimized and quantified by MS/MS after chromatographic separation. This versatile procedure has been adapted for the analysis of GAGs from various samples, including urine [155–157], cerebrospinal fluid (CSF) [158], and animal tissues [159]. The same procedure has been used to analyze CS and KS [160].…”

Section: Gag Assay Methodsmentioning

confidence: 99%

Glycosaminoglycans detection methods: Applications of mass spectrometry

Kubaski

Osago

Mason

et al. 2017

Molecular Genetics and Metabolism

100

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Glycosaminoglycans (GAGs) are long blocks of negatively charged polysaccharides. They are one of the major components of the extracellular matrix and play multiple roles in different tissues and organs. The accumulation of undegraded GAGs causes mucopolysaccharidoses (MPS). GAGs are associated with other pathological conditions such as osteoarthritis, inflammation, diabetes mellitus, spinal cord injury, and cancer. The need for further understanding of GAG functions and mechanisms of action boosted the development of qualitative and quantitative (alcian blue, toluidine blue, paper and thin layer chromatography, gas chromatography, high pressure liquid chromatography, capillary electrophoresis, 1,9-dimethylmethylene blue, enzyme linked-immunosorbent assay, mass spectrometry) techniques. The availability of quantitative techniques has facilitated translational research on GAGs into the medical field for: 1) diagnosis, monitoring, and screening for MPS; 2) analysis of GAG synthetic and degradation pathways; and 3) determination of physiological and pathological roles of GAGs. This review provides a history of development of GAG assays and insights about the use of tandem mass spectrometry and its applications for GAG analysis.

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“…Deuterated pseudo-IS were easily synthesized by deuteriomethanolysis without the need for organic synthesis equipment (Zhang et al 2011). Over the years, the methodology was applied to several matrices by different research groups and has proven useful for urine analysis ChuangCK et al 2014;Zhang et al 2015), urine collected on filter paper (Auray-Blais et al 2012a), cerebrospinal fluid (Zhang et al 2011), and even animal tissue specimens (Trim et al 2014). The procedure was improved with the addition of specific disaccharides for CS and KS (Zhang et al 2015;A u r a y -Blais et al 2016).…”

Section: Mucopolysaccharidosesmentioning

confidence: 99%

Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders

Piraud

Pettazzoni

Lavoie

et al. 2018

J of Inher Metab Disea

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Tandem mass spectrometry (MS/MS) is a highly sensitive and specific technique. Thanks to the development of triple quadrupole analyzers, it is becoming more widely used in laboratories working in the field of inborn errors of metabolism. We review here the state of the art of this technique applied to the diagnosis of lysosomal storage disorders (LSDs) and how MS/MS has changed the diagnostic rationale in recent years. This fine technology brings more sensitive, specific, and reliable methods than the previous biochemical ones for the analysis of urinary glycosaminoglycans, oligosaccharides, and sialic acid. In sphingolipidoses, the quantification of urinary sphingolipids (globotriaosylceramide, sulfatides) is possible. The measurement of new plasmatic biomarkers such as oxysterols, bile acids, and lysosphingolipids allows the screening of many sphingolipidoses and related disorders (Niemann-Pick type C), replacing tedious biochemical techniques. Applied to amniotic fluid, a more reliable prenatal diagnosis or screening of LSDs is now available for fetuses presenting with antenatal manifestations. Applied to enzyme measurements, it allows high throughput assays for the screening of large populations, even newborn screening. The advent of this new method can modify the diagnostic rationale behind LSDs.

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A simple method for early age phenotype confirmation using toe tissue from a mouse model of MPS IIIA

Cited by 26 publications

References 24 publications

Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry

Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry

Glycosaminoglycans detection methods: Applications of mass spectrometry

Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders

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