It Is Not Always Alcohol Abuse-A Transferrin Variant Impairing the CDT Test

Alcohol and Alcoholism : International Journal of the Medical Council on Alcoholism
Andrea ZühlsdorfThorsten Marquardt

Abstract

Elevated Carbohydrate-deficient transferrin (CDT) levels are used as a biomarker in order to screen for chronic alcohol abuse. Transferrin (Tf) variants can impair methods to measure elevated CDT levels such as high-performance liquid chromatography (HPLC). We present a Tf variant affecting the second glycosylation site of Tf and the complications it causes in diagnosing alcoholism. A blood sample from a patient with suspected alcohol abuse was analyzed with HPLC, isoelectric focusing, electrospray ionization time-of-flight mass spectrometry (ESI-TOF-MS), immunoprecipitation and SDS-Page. Sanger sequencing of Tf was performed to detect Tf mutations. HPLC, SDS-Page and IEF showed a distinctly increased disialo-Tf fraction while the tetrasialo-Tf fraction was decreased, ESI-TOF-MS confirmed these results. Sanger sequencing revealed the Tf mutation c.1889 A>C, deleting a Tf glycosylations site and thereby causing elevated disialo-Tf levels. Transferrin mutations can severely impair the diagnostics of chronic alcohol abuse by causing false positive results. This has to be considered when CDT screening is used to detect alcoholism.

References

Apr 29, 1998·The Journal of Clinical Investigation·R NiehuesT Marquardt
Apr 29, 1998·Journal of Addictive Diseases·N S Miller, M S Gold
Aug 29, 2001·Alcohol and Alcoholism : International Journal of the Medical Council on Alcoholism·A HelanderB Zakrisson
Nov 27, 2002·Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences·Frank Musshoff
Jun 19, 2004·Journal of Toxicology and Environmental Health. Part B, Critical Reviews·Klaus Golka, Andreas Wiese
May 27, 2006·Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences·Federica BortolottiFranco Tagliaro
Apr 19, 2007·Clinical Chemistry and Laboratory Medicine : CCLM·Jan-Olof JeppssonUNKNOWN International Federation of Clinical Chemistry and Laboratory Medicine Working Group on Standardization of Carbohydrate-defi
Jun 15, 2007·Forensic Science International : Synergy·Torsten ArndtHolger Weckesser
Mar 25, 2011·Journal of Inherited Metabolic Disease·Mailys GuillardDirk J Lefeber
Dec 18, 2012·Clinical Chemistry and Laboratory Medicine : CCLM·Cas WeykampUNKNOWN IFCC Working Group on Standardization of Carbohydrate-Deficient Transferrin (WG-CDT)
Jun 1, 2012·Germs·Hilary Denis Solomons
Feb 7, 2014·The New England Journal of Medicine·Laura C TegtmeyerThorsten Marquardt
Feb 11, 2014·Clinica Chimica Acta; International Journal of Clinical Chemistry·Anders HelanderGösta Eggertsen
May 17, 2014·Journal of Inherited Metabolic Disease·Kyle ScottEva Morava
May 31, 2014·Clinica Chimica Acta; International Journal of Clinical Chemistry·Julien H ParkThorsten Marquardt
Oct 12, 2014·Clinical Biochemistry·Andrea ZühlsdorfThorsten Marquardt

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Citations

Jul 10, 2018·Poultry Science·W I SonntagM von Meyer-Höfer
Jul 12, 2019·Alcohol and Alcoholism : International Journal of the Medical Council on Alcoholism·Agnese VeronesiCristina Rota
Nov 10, 2020·Alcoholism, Clinical and Experimental Research·Alexander ÅrvingStig Tore Bogstrand
Aug 11, 2020·Clinical Chemistry and Laboratory Medicine : CCLM·Bruno CasettaGiancarlo la Marca

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