- Title
- Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1
- 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
- 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
- Publisher
- National Academy of Sciences
- Resource Type
- journal article
- Date
- 2007
- 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.
- Subject
- autoimmune polyendocrine syndrome type 1 (APS1); autoimmune regulator (AIRE) gene; high titer autoantibodies (Aabs); pituitary autoantibodies
- Identifier
- http://hdl.handle.net/1959.13/32953
- Identifier
- uon:3113
- Identifier
- ISSN:0027-8424
- Language
- eng
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