Validation of Liquid Chromatography-Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses

Autor: Hironori Kobayashi, Shunji Tomatsu, Takeshi Taketani, Kenji E. Orii, Atsushi Nagai, Yoshitomo Notsu, Toshiyuki Fukao, Jun Watanabe, Tsubasa Oguni, Misa Tanaka, Thi Bich Ngoc Can, Michael H. Gelb, Dung Chi Vu, Seiji Yamaguchi, Seiji Fukuda
Rok vydání: 2020
Předmět:
liquid chromatography tandem mass spectrometry
0301 basic medicine
enzyme assay
Mucopolysaccharidosis I
Mucopolysaccharidosis
030105 genetics & heredity
Tandem mass spectrometry
lcsh:Chemistry
Glycosaminoglycan
Iduronidase
Mucopolysaccharidosis III
0302 clinical medicine
Tandem Mass Spectrometry
Liquid chromatography–mass spectrometry
Multiplex
skin and connective tissue diseases
lcsh:QH301-705.5
Spectroscopy
Glycosaminoglycans
Mucopolysaccharidosis II
Mucopolysaccharidosis VI
biology
Chemistry
Mucopolysaccharidosis IV
mucopolysaccharidosis
General Medicine
Computer Science Applications
Dried blood spot
congenital
hereditary
and neonatal diseases and abnormalities
Article
Catalysis
Inorganic Chemistry
03 medical and health sciences
Neonatal Screening
newborn screening
medicine
Humans
Physical and Theoretical Chemistry
Molecular Biology
Enzyme Assays
Newborn screening
Chromatography
Organic Chemistry
Infant
Newborn
nutritional and metabolic diseases
Mucopolysaccharidoses
medicine.disease
Enzyme assay
lcsh:Biology (General)
lcsh:QD1-999
biology.protein
030217 neurology & neurosurgery
Chromatography
Liquid
Zdroj: International Journal of Molecular Sciences
Volume 21
Issue 6
International Journal of Molecular Sciences, Vol 21, Iss 6, p 2025 (2020)
ISSN: 1422-0067
Popis: Mucopolysaccharidoses (MPSs) are rare lysosomal storage diseases caused by the accumulation of undegraded glycosaminoglycans in cells and tissues. The effectiveness of early intervention for MPS has been reported. Multiple-assay formats using tandem mass spectrometry have been developed. Here, we developed a method for simultaneous preparation and better measurement of the activities of five enzymes involved in MPSs, i.e., MPS I, MPS II, MPS IIIB, MPS IVA, and MPS VI, which were validated using 672 dried blood spot samples obtained from healthy newborns and 23 patients with MPS. The mean values of the enzyme activities and standard deviations in controls were as follows: &alpha
iduronidase (IDUA), 4.19 ±
1.53 µ
M/h
iduronate-2-sulfatase (I2S), 8.39 ±
2.82 µ
N-acetyl-&alpha
glucosaminidase (NAGLU), 1.96 ±
0.57 µ
N-acetylgalactosamine-6-sulfatase (GALNS), 0.50 ±
0.20 µ
and N-acetylgalactosamine-4-sulfatase (ARSB), 2.64 ±
1.01 µ
M/h. All patients displayed absent or low enzyme activity. In MPS I, IIIB, and VI, each patient group was clearly separated from controls, whereas there was some overlap between the control and patient groups in MPS II and IVA, suggesting the occurrence of pseudo-deficiencies. Thus, we established a multiplex assay for newborn screening using liquid chromatography tandem mass spectrometry, allowing simultaneous pretreatment and measurement of five enzymes relevant to MPSs.
Databáze: OpenAIRE
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