Chaperone mutation in Tn syndrome

Tongzhong Ju and Richard D. Cummings ()
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Tongzhong Ju: Oklahoma Center for Medical Glycobiology, University of Oklahoma Health Sciences Center
Richard D. Cummings: Oklahoma Center for Medical Glycobiology, University of Oklahoma Health Sciences Center

Nature, 2005, vol. 437, issue 7063, 1252-1252

Abstract: Abstract Tn syndrome is a rare autoimmune disease in which subpopulations of blood cells in all lineages carry an incompletely glycosylated membrane glycoprotein, known as the Tn antigen. This truncated antigen has the sugar N-acetylgalactosamine α-linked to either a serine or threonine amino-acid residue1,2, whereas the correct T antigen has an additional terminal galactose; the defect may be due to a malfunction of the glycosylating enzyme T-synthase3,4. Here we show that Tn syndrome is associated with a somatic mutation in Cosmc, a gene on the X chromosome that encodes a molecular ‘chaperone’ that is required for the proper folding and hence full activity of T-synthase5. The production of the autoimmune Tn antigen by a glycosyltransferase enzyme rendered defective by a disabled chaperone may have implications for other Tn-related disorders such as IgA nephropathy, a condition that can result in renal failure.

Date: 2005
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DOI: 10.1038/4371252a

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