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Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1
- Source :
- Proceedings of the National Academy of Sciences. 104:949-954
- Publication Year :
- 2007
- Publisher :
- Proceedings of the National Academy of Sciences, 2007.
-
Abstract
- 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.
- Subjects :
- Male
medicine.medical_specialty
Pituitary gland
Adolescent
Amino Acid Motifs
Guinea Pigs
Molecular Sequence Data
030209 endocrinology & metabolism
Biology
Autoantigens
03 medical and health sciences
0302 clinical medicine
Anterior pituitary
Internal medicine
medicine
Animals
Humans
Immunoprecipitation
Child
Polyendocrinopathies, Autoimmune
Autoantibodies
030304 developmental biology
0303 health sciences
Multidisciplinary
Autoantibody
Biological Sciences
Autoimmune regulator
medicine.disease
Immunohistochemistry
In vitro
3. Good health
medicine.anatomical_structure
Endocrinology
Autoimmune polyendocrine syndrome type 1
Growth Hormone
Pituitary Gland
Female
Immunostaining
Subjects
Details
- ISSN :
- 10916490 and 00278424
- Volume :
- 104
- Database :
- OpenAIRE
- Journal :
- Proceedings of the National Academy of Sciences
- Accession number :
- edsair.doi.dedup.....f579abf3180592efb62b4cdf95b25309