Molecular pathways involved in the development of congenital erythrocytosis

Tomc, Jana (author), Debeljak, Nataša (author)

Patients with idiopathic erythrocytosis are directed to targeted genetic testing including nine genes involved in oxygen sensing pathway in kidneys, erythropoietin signal transduction in pre-erythrocytes and hemoglobin-oxygen affinity regulation in mature erythrocytes. However, in more than 60% of cases the genetic cause remains undiagnosed, suggesting that other genes and mechanisms must be involved in the disease development. This review aims to explore additional molecular mechanisms in recognized erythrocytosis pathways and propose new pathways associated with this rare hematological disorder. For this purpose, a comprehensive review of the literature was performed and different in silico tools were used. We identified genes involved in several mechanisms and molecular pathways, including mRNA transcriptional regulation, post-translational modifications, membrane transport, regulation of signal transduction, glucose metabolism and iron homeostasis, which have the potential to influence the main erythrocytosis-associated pathways. We provide valuable theoretical information for deeper insight into possible mechanisms of disease development. This information can be also helpful to improve the current diagnostic solutions for patients with idiopathic erythrocytosis.

• Language: English
• Keywords: erythrocytosis, disease mechanisms, metabolomics, congenital, familial, signal transduction, transcriptomic, proteomic
• Work type: Article
• Typology: 1.02 - Review Article
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2021
• Number of pages: 20 str.
• Numbering: Vol. 12, iss. 8, art. 1150
• PID: 20.500.12556/RUL-135705
• UDC: 616.1
• ISSN on article: 2073-4425
• DOI: 10.3390/genes12081150
• COBISS.SI-ID: 72028419
• Publication date in RUL: 29.03.2022

Record is a part of a journal

• Title: Genes
• Shortened title: Genes
• Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
• ISSN: 2073-4425
• COBISS.SI-ID: 523100185

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
• Licensing start date: 01.08.2021

Secondary language

• Language: Slovenian
• Keywords: eritrocitoza, mehanizmi bolezni, metabolomika

Projects

• Funder: ARRS - Slovenian Research Agency
• Project number: L3-9279
• Name: Genetska osnova eritrocitoz v Sloveniji

• Funder: ARRS - Slovenian Research Agency
• Project number: P1-0390
• Name: Funkcijska genomika in biotehnologija za zdravje