Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.13/32953

OpenURL Link
Title
Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1
Author/Creator
Bensing, Sophie;  Fetissov, Serguei;  Hulting, Anna-Lena;  Kampe, Olle;  Mulder, Jan;  Perheentupa, Jakkoo;  Gustafsson, Jan;  Husebye, Eystein S.;  Oscarson, Mikael;  Ekwall, Olov;  Crock, Patricia A.;  Hokfelt, Tomas
Institution
The University of Newcastle. Faculty of Health, School of Medicine and Public Health
Description
Autoimmune polyendocrine syndrome type 1 (APS1) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator (AIRE) gene. High titer autoantibodies (Aabs) toward intracellular enzymes are a hallmark for APS1 and serve as diagnostic markers and predictors for disease manifestations. In this study, we aimed to identify pituitary autoantigens in patients with APS1. A pituitary cDNA expression library was screened with APS1 sera and a tudor domain containing protein 6 (TDRD6) cDNA clone was isolated. Positive immunoreactivity against in vitro translated TDRD6 fragments was shown in 42/86 (49%) APS1 patients but not in patients with other autoimmune diseases or in healthy controls. By using immunohistochemistry, sera from 3/6 APS1 patients with growth hormone (GH) deficiency showed immunostaining of a small number of guinea pig anterior pituitary cells, and 40–50% of these cells were GH-positive. No such immunostaining was seen with sera from healthy controls. The APS1 Aab-positive, GH-negative cells may represent a novel subpopulation of anterior pituitary cells. In addition, 4/6 patient sera showed staining of a fiber-plexus in the pituitary intermediate lobe recognizing enzymes of monoamine and GABA synthesis. Thus, we have identified TDRD6 as a major autoantigen in APS1 patients and shown that several sera from GH-deficient patients stain specific cell populations and nerves in the pituitary gland.
Relation
Proceedings of the National Academy of Sciences of the United States of America Vol. 104, Issue 3, p. 949-954
Publisher Link
http://dx.doi.org/10.1073/pnas.0610070104
Date
2007
Publisher
National Academy of Sciences
Keyword(s)
autoimmune polyendocrine syndrome type 1 (APS1);  autoimmune regulator (AIRE) gene;  high titer autoantibodies (Aabs);  pituitary autoantibodies
Resource Type
journal article
Identifier
http://hdl.handle.net/1959.13/32953
Identifier
ISSN:0027-8424
Reviewed
Reviewed
11 Visitors 13 Hits 0 Downloads
Save/E-mail Citation
Citation Format
E-mail Address
Subject
"Proceedings of the National Academy of Sciences of the United States of America"
 
OR