Abstract
Serum transthyretin has several isoforms, most of which are caused by disulfide linkage with cysteine residue at position 10. We found an ion peak 80 D larger than unmodified transthyretin by electrospray ionization mass spectrometry and assigned it to S- sulfonated transthyretin. The peak height was <2% of total transthyretin in control sera from more than 200 individuals including infants. Transthyretin from a patient with molybdenum cofactor deficiency was analyzed, and the peak was prominent, higher than 85% of total transthyretin. In patients with this disease, the presence of elevated levels of sulfite leads to the formation of S-sulfonated cysteine. The peak can be used as a diagnostic marker for molybdenum cofactor deficiency, although more sera from patients with this disease should be tested.
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Abbreviations
- TTR:
-
transthyretin
- MCD:
-
molybdenum cofactor deficiency
- ESIMS:
-
electrospray ionization mass spectrometry
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Acknowledgements
The authors thank Drs. Satoshi Sumi and Kiyoshi Kidouchi (Department of Pediatrics, Nagoya City University School of Medicine) for the analyses of xanthine and hypoxanthine.
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Supported by a 1998–2000 grant-in-aid for exploratory research (to M.K.) from the Ministry of Education, Science, Sports, and Culture of Japan.
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Kishikawa, M., Nakanishi, T., Shimizu, A. et al. Detection by Mass Spectrometry of Highly Increased Amount of S- Sulfonated Transthyretin in Serum from a Patient with Molybdenum Cofactor Deficiency. Pediatr Res 47, 492–494 (2000). https://doi.org/10.1203/00006450-200004000-00013
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DOI: https://doi.org/10.1203/00006450-200004000-00013
