Z3-7198 — Interim report
1.
Extracellular vesicles and their clinical potential

Extracellular vesicles are a heterogeneous population of membrane vesicles, released from cells both in vivo and in vitro, with an important role in intercellular communication. They have been isolated from a variety of biological samples such as blood, bronchoalveolar lavage, synovial fluid, urine, amniotic fluid, semen, milk, saliva; and from cell cultures of most mammalian cells. Based on their size and the site of formation in the cell, they are classified as exosomes (30–100 nm), microvesicles (100–1,000 nm) and apoptotic bodies (1, 000–5,000 nm). Their protein, nucleic acid (miRNA) and lipid composition reflects the composition of the parental cell and depends on the current state of the cell. Consequently, the extracellular vesicles are an important source of novel biomarkers for diverse physiological conditions with important diagnostic and prognostic value, especially for disorders of the central-nervous system. Researchers also investigate the potential use of extracellular vesicles as targets for diagnostic and therapeutic purposes, but many obstacles still have to be overcome. Due to their great clinical potential, the interest in extracellular vesicle characterization, formation and role increased importantly in recent years, fueling also development of new methods for their isolation and analysis. In the present review we will describe the types of extracellular vesicles, methods for their isolation and analysis, their biological role and clinical potential.

COBISS.SI-ID: 32578521
2.
HIF1A gene polymorphisms and human diseases : graphical review of 97 association studies.

Hypoxia-inducible factors (HIFs) belong to a family of transcription factors (TF) responsive to a low O2 availability, which is often a characteristic feature of solid tumors. The alpha subunit of the HIF heterodimer is O2 -sensitive, and once stabilized in hypoxia, it functions as a master regulator of various genes involved in hypoxia pathway. Changes in the HIF1A (hypoxia inducible factor 1, alpha subunit) nucleotide sequence or expression has been shown to be associated with development of several diseases. Due to increasing research interest in HIF1A gene a review of association studies was needed. We here reviewed published data on single nucleotide polymorphisms (SNPs) in HIF1A in various diseases; in total, 34 SNPs were tested for an association with 49 phenotypes, and the results were visualized using the Cytoscape software. Among all collected polymorphisms 16 SNPs showed significant associations with 40 different phenotypes, including six SNPs associated with 14 cancer types. Missense SNPs (rs11549465 and rs11549467) within the oxygen-dependent degradation domain were most frequently studied. The study provides a comprehensive tool for researchers working in this area and may contribute to more accurate disease diagnosis and identification of therapeutic targets.

COBISS.SI-ID: 3859080