beta-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain.
|
| Abstract |
As carbohydrate-deficient glycoprotein syndromes (CDGS) are multisystemic disorders with impaired central nervous function in nearly all cases, we tested isoforms of beta-trace protein (beta TP), a 'brain-type' glycosylated protein in cerebrospinal fluid (CSF) of nine patients with the characteristic CDGS type I pattern of serum transferrin. Whereas the serum transferrin pattern did not discriminate between the various subtypes of CDGS type I (CDGS type Ia, type Ic, and patients with unknown defect), beta TP isoforms of CDGS type Ia patients differed from that of the other CDGS type I patients. The percentage of abnormal beta TP isoforms correlated with the severity of the neurological symptoms. Furthermore, two patients are described, who illustrate that abnormal protein N-glycosylation can occur restricted to either the 'peripheral' serum or the central nervous system compartment. This is the first report presenting evidence for an N-glycosylation defect restricted to the brain. Testing beta TP isoforms is a useful tool to detect protein N-glycosylation disorders in the central nervous system.
|
|---|---|
| Authors | S Grünewald, K Huyben, J G de Jong, J A Smeitink, E Rubio, G H Boers, H S Conradt, U Wendel, R A Wevers |
| Journal | Biochimica et biophysica acta (Biochim Biophys Acta) Vol. 1455 Issue 1 Pg. 54-60 (Sep 20 1999) ISSN: 0006-3002 [Print] Netherlands |
| PMID | 10524229 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't) |
| Chemical References |
|
| Topics |
|
Join CureHunter, for free Research Interface BASIC access!
Realize the full power of the drug-disease research graph!