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Gene Regulation in Endocrine Disease, 2nd Edition

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Endocrinology and Metabolism".

Deadline for manuscript submissions: 20 June 2026 | Viewed by 224

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SC Endocrinologia, ASST Grande Ospedale Metropolitano Niguarda, Piazza dell’Ospedale Maggiore, 3, 20162 Milano, Italy
Interests: osteoporosis; metabolic bone diseases; parathyroid diseases; multiple endocrine neoplasia; genetic diseases of bone
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Special Issue Information

Dear Colleagues,

Gene regulation, a finely tuned process, governs the activation or repression of genes, ensuring a dynamic response to internal and external cues. Within the context of endocrine physiology, this regulation is particularly crucial, dictating the synthesis and secretion of hormones that exert systemic effects on diverse tissues and organs. The dysregulation of gene expression in the endocrine system can lead to a spectrum of diseases, ranging from subtle imbalances to overt pathological states.

Endocrine diseases, sporadic and inherited or heritable, encompass a broad spectrum of conditions, including diabetes mellitus, thyroid disorders, adrenal dysfunction, neuroendocrine tumors, and disorders of the reproductive system. In each case, the perturbation of gene regulation emerges as a critical player, influencing the synthesis, release, and responsiveness of hormones. The advent of advanced genomic technologies has empowered researchers to dissect the genetic basis of these diseases, paving the way for targeted therapeutic approaches and precision medicine.

The integration of molecular genetics and endocrinology has unveiled a rich tapestry of mechanisms through which gene regulation contributes to the development and progression of endocrine disorders. From mutations in transcription factors that modulate hormone synthesis to alterations in the regulatory regions of hormone-encoding genes, the genetic landscape of endocrine diseases is becoming increasingly better understood at the molecular level. Volume 1.0 of the Special Issue “Gene Regulation in Endocrine Disease” (https://www.mdpi.com/journal/ijms/special_issues/C75MXCPZ2P) has been highly successful. We therefore aim to reopen this topic as volume 2.0. This second Special Issue seeks to unravel the intricate interplay between gene regulation and endocrine diseases, offering insights into the molecular underpinnings that shape the pathophysiology of disorders within the endocrine system.

Dr. Alberto Falchetti
Guest Editor

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Keywords

  • gene regulation
  • endocrine disease
  • endocrinology
  • diabetes mellitus
  • thyroid disorders

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Published Papers (1 paper)

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Research

22 pages, 3642 KB  
Article
Functional Properties of POU1F1 Mutants in the Transcriptional Regulation of the Thyrotropin β Gene Compared with the Prolactin Gene
by Yuto Kawauchi, Shigekazu Sasaki, Akio Matsushita, Hiroko Misawa Nakamura, Miho Yamashita, Keisuke Kakizawa, Kenji Ohba, Daisuke Tsuriya, Tomohiro Tanaka and Takafumi Suda
Int. J. Mol. Sci. 2026, 27(1), 119; https://doi.org/10.3390/ijms27010119 - 22 Dec 2025
Viewed by 53
Abstract
Mutations in the POU1F1 gene cause defects in the expression of the genes encoding thyroid-stimulating hormone (TSH)-β subunit, growth hormone (GH), and prolactin (PRL). Here, we characterized 15 missense and nonsense mutations. Protein stability was reduced in the P14L, P24L, F135C, K145X, F233S [...] Read more.
Mutations in the POU1F1 gene cause defects in the expression of the genes encoding thyroid-stimulating hormone (TSH)-β subunit, growth hormone (GH), and prolactin (PRL). Here, we characterized 15 missense and nonsense mutations. Protein stability was reduced in the P14L, P24L, F135C, K145X, F233S and E250X mutants. Transactivation by 15 mutants in the TSHβ promoter was moderately correlated with that of the PRL promoter. Based on their transcriptional activity, we classified them into three groups: group I, equivalent to the wild type; group II, partial; and group III, substantially lost. A review of case reports on four patients with group II mutations revealed that TSH deficiency manifested after recombinant GH therapy. A transcription factor, GATA2, is the main activator in the TSHβ gene, while POU1F1 protects its function from inhibition by the suppressor region (SR). We found that the SR is critical for the pathogenesis of TSH deficiency. The transactivation of the TSHβ promoter by the K216E mutant was equivalent to that of wild-type POU1F1; however, that of the PRL promoter was low, while the opposite was found in the R271W mutant. The functional property of K216E suggests that the interaction of POU1F1 with GATA2 may not always be necessary for the activation of the TSHβ promoter. Full article
(This article belongs to the Special Issue Gene Regulation in Endocrine Disease, 2nd Edition)
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