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Anti-ZSCAN1 Autoantibodies Are a Feasible Diagnostic Marker for ROHHAD Syndrome Not Associated with a Tumor.
Nakamura-Utsunomiya, Akari; Yamaguchi, Kei; Goshima, Naoki.
Afiliação
  • Nakamura-Utsunomiya A; Department of Pediatrics/Medical Genetics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734-8551, Japan.
  • Yamaguchi K; Department of Pediatrics, Hiroshima Medical Center, Asa Citizens Hospital, Hiroshima 731-0293, Japan.
  • Goshima N; Division of Neonatal Screening, National Center for Child Health and Development, Tokyo 157-8535, Japan.
Int J Mol Sci ; 25(3)2024 Feb 01.
Article em En | MEDLINE | ID: mdl-38339072
ABSTRACT
Recent studies have reported the presence of autoantibodies against zinc finger and SCAN domain-containing protein 1 (ZSCAN1) in the sera of patients with rapid-onset obesity with hypoventilation, hypothalamic and autonomic dysregulation (ROHHAD) syndrome associated with neuroendocrine tumors, suggesting immunologic and paraneoplastic processes as the pathologic underpinnings. Moreover, several hypothalamic regions, including the subfornical organ (SFO), were reported to exhibit antibody reactivity in a patient with ROHHAD syndrome not associated with a tumor. Whether ROHHAD syndrome not associated with a tumor is associated with anti-ZSCAN1 autoantibodies remains unclear. We used a comprehensive protein array analysis to identify candidate molecules in the sera of patients with ROHHAD syndrome and identified ZSCAN1 as a target antigen. We also found that ZSCAN1 was co-expressed at the site of antibody reactivity to the IgG in the patient serum observed in mouse SFOs and an enzyme-linked immunosorbent assay showed that >85% of the patients with ROHHAD syndrome were positive for anti-ZSCAN1 autoantibodies. These results suggest anti-ZSCAN1 autoantibodies as a feasible diagnostic marker in ROHHAD syndrome regardless of the presence of a tumor.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tumores Neuroendócrinos / Obesidade Infantil / Doenças Hipotalâmicas Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Japão

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tumores Neuroendócrinos / Obesidade Infantil / Doenças Hipotalâmicas Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Japão