title: The peak height ratio of S-sulfonated transthyretin and other oxidized isoforms as a marker for molybdenum cofactor deficiency, measured by electrospray ionization mass spectrometry.
abstract: Molybdenum cofactor deficiency is a fatal neurological disorder, which follows an autosomal-recessive trait and is characterized by combined deficiency of the enzyme, sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase. Early detection of molybdenum cofactor-deficient patients is essential for their proper care and genetic counseling of families at risk. We demonstrate the use of S-sulfonated transthyretin (TTR) as a marker for molybdenum cofactor deficiency. Plasma or sera obtained from 4 patients with molybdenum cofactor deficiency and 57 controls were studied by electrospray ionization mass spectrometry (ESIMS) following selective enrichment of TTR by immunoprecipitation using protein G/A agarose. The data obtained from molybdenum cofactor deficiency samples indicated a strong increase in the peak height of S-sulfonated TTR. A more significant difference was revealed if the peak height ratio of S-sulfonated TTR and the sum of the other oxidized TTR were determined. By accurate determination of the ratio, the samples of molybdenum cofactor deficiency patients could clearly be distinguished from controls without molybdenum cofactor deficiency.
authors.affiliation: Department of Clinical Pathology, Osaka Medical College, 2-7 Daigakucho, Takatsuki, Osaka 569-8686, Japan.
authors.forename: Masahiko
authors.initials: M
authors.lastname: Kishikawa
authors.forename: Jörn Oliver
authors.initials: JO
authors.lastname: Sass
authors.forename: Nobuo
authors.initials: N
authors.lastname: Sakura
authors.forename: Toyofumi
authors.initials: T
authors.lastname: Nakanishi
authors.forename: Akira
authors.initials: A
authors.lastname: Shimizu
authors.forename: Masanori
authors.initials: M
authors.lastname: Yoshioka
mesh_terms: D000293:Adolescent; D015415:Biomarkers / Q000097:blood; D002648:Child; D002675:Child, Preschool; D003067:Coenzymes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008667:Metalloproteins / Q000172:deficiency*; D000090006:Molybdenum Cofactors; D010084:Oxidation-Reduction; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000172:deficiency; D011228:Prealbumin / Q000032:analysis* / Q000737:chemistry; D011233:Precipitin Tests; D020033:Protein Isoforms / Q000032:analysis / Q000097:blood; D011621:Pteridines; D021241:Spectrometry, Mass, Electrospray Ionization / Q000379:methods*; D013447:Sulfites / Q000737:chemistry
chemical_list: D015415:Biomarkers; D003067:Coenzymes; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D050862:Oxidoreductases Acting on Sulfur Group Donors; D011228:Prealbumin; D020033:Protein Isoforms; D011621:Pteridines; D013447:Sulfites; C022261:molybdopterin