Testis-expressed protein TSGA10 an auto-antigen in autoimmune polyendocrine syndrome type I.
Autoimmune polyendocrine syndrome type 1 (APS1) is a rare monogenic autosomal recessive disorder. Autoimmune gonadal failure is often one of its features. The aim of this study was to identify targets of immune reactions associated with male autoimmune hypogonadism in APS1. Human testis cDNA expression library immunoscreening with APS1 patients' sera identified the protein testis-specific protein 10 (TSGA10), which is a testis-expressed protein with a key role in spermatogenesis. The corresponding serum autoantibodies were detected by Radioimmunoprecipitation assay in 3 of 40 male (7.5%) and 2 of 26 female (7.7%) APS1 patients but in none of either 32 patients with Addison's disease or 116 healthy controls (p = 0.0055). However, the TSGA10 antibodies in APS1 patients showed no correlation with testicular or ovarian failure or with autoimmune hypogonadism markers. Nevertheless, their presence in a proportion of patients with APS1 highlights the role of TSGA10 as a target of immune reactions in APS1.
Reimand
Koit
K
Immunology and Molecular Pathology Groups, Centre of Molecular and Clinical Medicine, University of Tartu, 19 Ravila Street, Tartu 50411, Estonia.
Perheentupa
Jaakko
J
Link
Maire
M
Krohn
Kai
K
Peterson
Pärt
P
Uibo
Raivo
R
D001323:Autoantibodies / Q000097:blood*; D001324:Autoantigens / Q000276:immunology* / Q000378:metabolism; D003598:Cytoskeletal Proteins; D005260:Female; D015723:Gene Library; D006801:Humans; D015151:Immunoblotting; D008297:Male; D016884:Polyendocrinopathies, Autoimmune / Q000276:immunology / Q000503:physiopathology; D011506:Proteins / Q000276:immunology* / Q000378:metabolism*; D015531:Radioimmunoprecipitation Assay; D013737:Testis / Q000378:metabolism
D001323:Autoantibodies; D001324:Autoantigens; D003598:Cytoskeletal Proteins; D011506:Proteins; C429756:TSGA10 protein, human