It Is Not Always Alcohol Abuse--A Transferrin Variant Impairing the CDT Test.
Alcohol Alcohol
; 51(2): 148-53, 2016 Mar.
Article
em En
| MEDLINE
| ID: mdl-26333807
ABSTRACT
AIMS:
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.METHODS:
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.RESULTS:
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.CONCLUSIONS:
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Variação Genética
/
Transferrina
/
Alcoolismo
/
Mutação
Limite:
Humans
Idioma:
En
Revista:
Alcohol Alcohol
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Alemanha