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.
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.
Kishikawa
Masahiko
M
Department of Clinical Pathology, Osaka Medical College, 2-7 Daigakucho, Takatsuki, Osaka 569-8686, Japan.
Sass
Jörn Oliver
JO
Sakura
Nobuo
N
Nakanishi
Toyofumi
T
Shimizu
Akira
A
Yoshioka
Masanori
M
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
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