engleski

The role of transcription factor HNF1A in glycosylation of plasma proteins

Glycosylation is the most diverse posttranslational protein modification. Over half of all known proteins are modified by covalently bound glycans, which are important for normal protein function. In numerous pathological conditions levels of a particular glycan structures are changing independently of protein concentration. A new role of the hepatocyte nuclear factor (HNF)-1A gene is shown as the transcriptional regulator of plasma protein fucosylation. Mutations in the HNF1A gene responsible for the subtype of diabetes HNF1A-MODY (maturity onset diabetes of the young) are also responsible for the decreased plasma protein antennary fucosylation. Numerous mutations, spread across ten exons, may cause inactivation of HNF1A transcription factor and subsequently lower levels of plasma protein fucosylation which is a promising biomarker for both, a HNF1A-MODY diagnosis and HNF1A impaired function.

Glycoproteins; glycosylation; fucosylation; HNF1A; MODY; biomarker

nije evidentirano