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Cells
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Cellular and Clinical Mechanisms of Growth Hormone and Growth Hormone...
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Cellular and Clinical Mechanisms of Growth Hormone and Growth Hormone Disorders

A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cell Microenvironment".

Deadline for manuscript submissions: closed (20 March 2022) | Viewed by 6292

Special Issue Editors

Prof. Dr. Bessie E. Spiliotis

E-Mail Website
Guest Editor
Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Patras School of Medicine, Panepistimioupoli, TK 26504 Patras, Greece
Interests: cellular and clinical mechanisms of childhood obesity; cellular and clinical mechanism of growth hormone and growth hormone disorders; diabetes mellitus in children
Special Issues, Collections and Topics in MDPI journals
Dr. Eirini Kostopoulou

E-Mail Website
Guest Editor
Consultant in Pediatrics and Pediatric Endocrinology, Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University Hospital of Patras, 26504 Patras, Greece
Interests: investigation of the molecular mechanisms involved in growth hormone disorders; investigation of oxidative stress mechanisms in type 1 diabetes mellitus; investigation of signaling pathways involved in pediatric and adult obesity; investigation of genetics and syndromic forms of congenital hyperinsulinism
Special Issues, Collections and Topics in MDPI journals
Dr. Andrea Paola Rojas Gil

E-Mail Website
Guest Editor
Department of Nursing, Faculty of Health Sciences, University of Peloponnese, 22100 Tripoli, Greece
Interests: diabetes; nutrition; oncology; metabolisms
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Growth hormone (GH) is an essential hormone that plays a significant role in skeletal development, linear growth, bone turnover, protein, lipid and carbohydrate metabolism and immune function. The neuroregulation of GH secretion is extremely complex with neurotransmitters from higher brain centers modulating the secretion of GH-releasing hormones (GHRHs) and somatostatin in the hypothalamus, which, in turn, regulate the synthesis and secretion of GH from the pituitary gland. Once GH is secreted from the pituitary it binds either with its binding protein (the extracellular portion of the GH receptor (GHR)) or with the GHR, thus activating the tyrosine kinase JAK2 and an entire cascade of signaling proteins, inducing multiple molecular signaling pathways and cellular responses. One of these pathways includes the activation of the STAT transcription factors responsible for the expression of multiple genes, including the gene that encodes the Insulin-like Growth Factor (IGF-I), the mediator of GH, which induces somatic growth and multiple GH-independent anabolic effects in multiple tissues and cells. It is noteworthy that the GHR, besides modulating growth, also plays a role in the body’s metabolism and in the reproductive, cardiovascular, hepatobilibary and gastrointestinal sytems. GH signaling is also a significant modulator of aging, cellular generation and the devlopment of cancer. Disorders in the hypothalamic–pituitary axis of GH and defects in the GH–IGF-I axis have been implicated not only in growth impairment but also in cardiovascular disease, the metabolic syndrome, neurodegenerative and neuropsychiatric disorders, renal disease and musculoskeletal disorders.

This Special Issue aims to summarize the current knowledge on the role of cellular and clinical mechanisms of growth hormone and growth hormone disorders.

We look forward to your contributions.

Prof. Dr. Bessie Spiliotis
Dr. Eirini Kostopoulou
Dr. Andrea Paola Rojas Gil
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cells is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • growth hormone
  • IGF-I
  • GHR
  • hypothalamus
  • pituitary gland

Published Papers (2 papers)

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Research

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15 pages, 653 KiB  
Article
Whole Exome Sequencing Points towards a Multi-Gene Synergistic Action in the Pathogenesis of Congenital Combined Pituitary Hormone Deficiency
by Amalia Sertedaki, Elizabeth Barbara Tatsi, Ioannis Anargyros Vasilakis, Irene Fylaktou, Eirini Nikaina, Nicoletta Iacovidou, Tania Siahanidou and Christina Kanaka-Gantenbein
Cells 2022, 11(13), 2088; https://doi.org/10.3390/cells11132088 - 30 Jun 2022
Cited by 4 | Viewed by 1814
Abstract
Combined pituitary hormone deficiency (CPHD) is characterized by deficiency of growth hormone and at least one other pituitary hormone. Pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus, and/or pituitary have been identified so far to cause [...] Read more.
Combined pituitary hormone deficiency (CPHD) is characterized by deficiency of growth hormone and at least one other pituitary hormone. Pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus, and/or pituitary have been identified so far to cause genetic forms of CPHD. However, the etiology of around 85% of the cases remains unknown. The aim of this study was to unveil the genetic etiology of CPHD due to congenital hypopituitarism employing whole exome sequencing (WES) in two newborn patients, initially tested and found to be negative for PROP1, LHX3, LHX4 and HESX1 pathogenic variants by Sanger sequencing and for copy number variations by MLPA. In this study, the application of WES in these CPHD newborns revealed the presence of three different heterozygous gene variants in each patient. Specifically in patient 1, the variants BMP4; p.Ala42Pro, GNRH1; p.Arg73Ter and SRA1; p.Gln32Glu, and in patient 2, the SOX9; p.Val95Ile, HS6ST1; p.Arg306Gln, and IL17RD; p.Pro566Ser were identified as candidate gene variants. These findings further support the hypothesis that CPHD constitutes an oligogenic rather than a monogenic disease and that there is a genetic overlap between CPHD and congenital hypogonadotropic hypogonadism. Full article
(This article belongs to the Special Issue Cellular and Clinical Mechanisms of Growth Hormone and Growth Hormone Disorders)
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Review

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22 pages, 2028 KiB  
Review
Pregnancy-Associated Plasma Protein (PAPP)-A2 in Physiology and Disease
by Vicente Barrios, Julie A. Chowen, Álvaro Martín-Rivada, Santiago Guerra-Cantera, Jesús Pozo, Shoshana Yakar, Ron G. Rosenfeld, Luis A. Pérez-Jurado, Juan Suárez and Jesús Argente
Cells 2021, 10(12), 3576; https://doi.org/10.3390/cells10123576 - 18 Dec 2021
Cited by 15 | Viewed by 3812
Abstract
The growth hormone (GH)/insulin-like growth factor (IGF) axis plays fundamental roles during development, maturation, and aging. Members of this axis, composed of various ligands, receptors, and binding proteins, are regulated in a tissue- and time-specific manner that requires precise control that is not [...] Read more.
The growth hormone (GH)/insulin-like growth factor (IGF) axis plays fundamental roles during development, maturation, and aging. Members of this axis, composed of various ligands, receptors, and binding proteins, are regulated in a tissue- and time-specific manner that requires precise control that is not completely understood. Some of the most recent advances in understanding the implications of this axis in human growth are derived from the identifications of new mutations in the gene encoding the pregnancy-associated plasma protein PAPP-A2 protease that liberates IGFs from their carrier proteins in a selective manner to allow binding to the IGF receptor 1. The identification of three nonrelated families with mutations in the PAPP-A2 gene has shed light on how this protease affects human physiology. This review summarizes our understanding of the implications of PAPP-A2 in growth physiology, obtained from studies in genetically modified animal models and the PAPP-A2 deficient patients known to date. Full article
(This article belongs to the Special Issue Cellular and Clinical Mechanisms of Growth Hormone and Growth Hormone Disorders)
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