Identification of the novel autoantigen candidate Rab GDP dissociation inhibitor alpha in isolated adrenocorticotropin deficiency

Kiyota, Atsushi; Iwama, Shintaro; Sugimura, Yoshihisa; Takeuchi, Seiji; Iwata, Naoko; Nakashima, Kohtaro; Suzuki, Haruyuki; Nishioka, Tomoki; Kato, Takuya; Enomoto, Atsushi; Arima, Hiroshi; Kaibuchi, Kozo; Oiso, Yutaka

doi:10.1507/endocrj.ej14-0369

Cited by 14 publications

(6 citation statements)

References 39 publications

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“…However, this antibody is not specific to lymphocytic hypophysitis, as it was also detected in other autoimmune endocrine diseases [ 21 ]. Kiyota et al identified a novel anterior pituitary autoantigen candidate, Rab GDI alpha, in patients with isolated corticotrope deficiency [ 22 ].…”

Section: Discussionmentioning

confidence: 99%

Late-Onset Isolated Corticotrope Deficiency in a Woman with Down Syndrome

Oueslati

Jemaa

Yazidi

et al. 2021

Case Reports in Endocrinology

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Isolated corticotrope deficiency is a rare cause of secondary adrenocortical insufficiency. Its occurrence in patients with Down syndrome is exceptional. Herein, we report a case of an isolated corticotrope deficiency diagnosed at the age of 33 years in a woman with Down syndrome and discuss its possible mechanisms. A 33-year-old woman with Down syndrome was referred to our department for the investigation of low blood pressure. She complained of asthenia, dizziness, and palpitation with arterial hypotension for the past 4 years. The thyroid function was normal and anti-thyroperoxidase antibodies were negative. The peak of cortisol level in response to the insulin-induced hypoglycemia test was 9.4 μg/dl. ACTH level was normal, indicating corticotrope deficiency. Other pituitary hormones were normal. Magnetic resonance imaging scan revealed a partially empty sella turcica. Genetic analysis showed no mutations and no copy number variants of the TBX19 and NFKB2 genes. The mechanism of isolated corticotrope deficiency is unclear, but it may be induced by autoimmune mechanism in similar to other disorders of patients with Down syndrome.

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Section: Discussionmentioning

confidence: 99%

Late-Onset Isolated Corticotrope Deficiency in a Woman with Down Syndrome

Oueslati

Jemaa

Yazidi

et al. 2021

Case Reports in Endocrinology

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“…Anti-alpha enolase antibodies were detected in other autoimmune diseases, such as mixed cryoglobulinemia, arthritis with kidney involvement, discoid and systemic lupus erythematosus, systemic sclerosis, rheumatoid arthritis, vasculitis with positive anti-neutrophil cytoplasmic antibodies, primary biliary cirrhosis, autoimmune hepatitis, primary sclerosing cholangitis, inflammatory bowel disease, and primary membranous nephropathy [ 13 ]. The antibodies anti-GH, anti-pituitary gland specific factor 1a (PGSF1a) and 2 (PGSF2), anti-chorionic somatomammotropin hormone, anti-prohormone convertase, anti-pituitary-specific positive transcription factor 1 (PIT-1), anti-pro-opiomelanocortin (POMC), anti-alpha rad guanine nucleotide dissociation inhibitor (GDI), anti-secretogranin, anti-tudor domain-containing protein (TDRD6) and anti-T-PIT were detected in patients affected by hypophysitis and by hypopituitarism [ 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 ]. Growth hormone and proopiomelanocortin were also suggested as antigens of IgG4-related hypophysitis [ 23 ].…”

Section: The Immune Response In Primary- and Immunotherapy-induced Hypophysitismentioning

confidence: 99%

“…The antibodies anti-GH, anti-pituitary gland specific factor 1a (PGSF1a) and 2 (PGSF2), anti-chorionic somatomammotropin hormone, anti-prohormone convertase, anti-pituitary-specific positive transcription factor 1 (PIT-1), anti-pro-opiomelanocortin (POMC), anti-alpha rad guanine nucleotide dissociation inhibitor (GDI), anti-secretogranin, anti-tudor domain-containing protein (TDRD6) and anti-T-PIT were detected in patients affected by hypophysitis and by hypopituitarism [ 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 ]. Growth hormone and proopiomelanocortin were also suggested as antigens of IgG4-related hypophysitis [ 23 ]. Antibodies against GH, PGSF1a, PGSF2, and T-PIT were also detected in healthy controls and in patients affected by isolated adrenocorticotropic hormone (ACTH) deficit or by other autoimmune diseases [ 20 , 21 ].…”

Section: The Immune Response In Primary- and Immunotherapy-induced Hypophysitismentioning

confidence: 99%

Molecular and Genetic Immune Biomarkers of Primary and Immune-Therapy Induced Hypophysitis: From Laboratories to the Clinical Practice

Chiloiro

Russo

Tartaglione

et al. 2021

JPM

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Hypophysitis is a rare and potentially life-threatening disease, characterized by an elevated risk of complications, such as the occurrence of acute central hypoadrenalism, persistent hypopituitarism, or the extension of the inflammatory process to the neighboring neurological structures. In recent years, a large number of cases has been described. The diagnosis of hypophysitis is complex because it is based on clinical and radiological criteria. Due to this, the integration of molecular and genetic biomarkers can help physicians in the diagnosis of hypophysitis and play a role in predicting disease outcome. In this paper, we review current knowledge about molecular and genetic biomarkers of hypophysitis with the aim of suggesting a possible integration of these biomarkers in clinical practice.

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“…For example, a prophase study reported that PTC was associated with a high incidence of the BRAF mutation, but such mutations occur less frequently in PTC concomitant with HT 23. Elevated levels of reactive oxygen species have been found in PTC and the transcription levels of related genes are upregulated in PTC with HT 24. Together, these findings indicate that PTC with HT is distinctly different from PTC without HT, while major and minor effects are merely manifestations of the numerous differentially expressed genes (DEGs) of PTC with HT.…”

Section: Introductionmentioning

confidence: 99%

<p>Upregulation Of Protein Tyrosine Phosphatase Receptor Type C Associates To The Combination Of Hashimoto’s Thyroiditis And Papillary Thyroid Carcinoma And Is Predictive Of A Poor Prognosis</p>

Han

Vladimirovna

et al. 2019

OTT

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IntroductionPTC is not generally considered a lethal disease, but prone to recurrence as the prognosis. Hashimoto’s thyroiditis (HT) is an important factor that affects the prognosis of papillary thyroid carcinoma (PTC). It is crucial to find biomarkers to identify the combination of HT with PTC and to predict the prognosis.MethodsRNASeq data from the Cancer Genome Atlas (TCGA) database was used to screen differentially expressed genes (DEGs) of PTC with HT via the edgeR package of R software version 3.3.0. Also, the DEGs were applied to the DAVID web-based tool to determine the enrichment of gene functions via Gene Ontology (GO) analysis and to identify associated pathways in the Kyoto Encyclopedia of Genes and Genomes (KEGG) database. By constructing protein interaction networks within Cytoscape software, we screened candidate genes and explored possible relationships with the clinical phenotype of PTC. Finally, additional thyroid tissue samples were collected to verify the results above.ResultsAfter analyzing the RNA-Seq data of PTC patients from the Cancer Genomic Atlas, 497 differentially expressed PTC genes were found to be associated with HT, of which protein tyrosine phosphatase receptor type C (PTPRC), KIT, and COL1A1 were associated with tumor size and lymph node metastasis (p < 0.05). Verification of these results with another 30 thyroid tissues of clinical PTC patients revealed that the expression level of PTPRC in the PTC with HT group was higher than that in the PTC without HT group (p < 0.05) and the ROC curve showed a good discrimination (area under the curve = 0.846). However, the correlation with the clinical phenotype was not statistically significant (p > 0.05).DiscussionThese data suggest that upregulation of PTPRC enhances the incidence of HT associated with PTC and is also predictive of a poor prognosis.

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Identification of the novel autoantigen candidate Rab GDP dissociation inhibitor alpha in isolated adrenocorticotropin deficiency

Cited by 14 publications

References 39 publications

Late-Onset Isolated Corticotrope Deficiency in a Woman with Down Syndrome

Late-Onset Isolated Corticotrope Deficiency in a Woman with Down Syndrome

Molecular and Genetic Immune Biomarkers of Primary and Immune-Therapy Induced Hypophysitis: From Laboratories to the Clinical Practice

<p>Upregulation Of Protein Tyrosine Phosphatase Receptor Type C Associates To The Combination Of Hashimoto’s Thyroiditis And Papillary Thyroid Carcinoma And Is Predictive Of A Poor Prognosis</p>

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