Jana Tomc (Author), Nataša Debeljak (Author)

Abstract

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.

Keywords

erythrocytosis;disease mechanisms;metabolomics;

Data

Language: English
Year of publishing:
Typology: 1.02 - Review Article
Organization: UL MF - Faculty of Medicine
UDC: 616.1
COBISS: 72028419 Link will open in a new window
ISSN: 2073-4425
Views: 108
Downloads: 49
Average score: 0 (0 votes)
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Other data

Secondary language: Slovenian
Secondary keywords: eritrocitoza;mehanizmi bolezni;metabolomika;
Type (COBISS): Article
Pages: str. 1-20
Volume: ǂVol. ǂ12
Issue: ǂno. ǂ8
Chronology: 2021
DOI: 10.3390/genes12081150
ID: 14880005