This study aims to present the current state of knowledge on the DNA-based prediction of human externally visible characteristics of an unknown person based on the crime scene biological material left behind. This DNA sa...This study aims to present the current state of knowledge on the DNA-based prediction of human externally visible characteristics of an unknown person based on the crime scene biological material left behind. This DNA sample is referred to as a “biological witness” and the procedure itself is called forensic DNA phenotyping (FDP). The analytic part of this work is based on scholarly articles published between 2015 and 2021. The electronic search of relevant references was conducted according to the PRISMA methodology in March 2021 at EBSCO Discovery Service (EDS) at the Adam Mickiewicz University library and Google Scholar. The molecular basis of FDP, DNA markers used to predict sex, age, biogeographic origin and externally visible traits such as pigmentation (skin, eye and hair colour), hair morphology, facial morphology, presence of freckles, body height, body weight (obesity), male pattern baldness and myopia were described. Furthermore, methodological difficulties resulting from the polygenic inheritance of the studied traits, as well as social and ethical problems accompanying forensic DNA phenotyping were discussed. Finally, key themes for future research related to forensic DNA phenotyping were outlined.
ARGONAUTE (AGO) proteins are integral parts of regulatory pathways under the control of small RNA (sRNA) that are fundamental for the proper functioning of eukaryotic cells. AGOs, as highly specialized platforms binding...ARGONAUTE (AGO) proteins are integral parts of regulatory pathways under the control of small RNA (sRNA) that are fundamental for the proper functioning of eukaryotic cells. AGOs, as highly specialized platforms binding specific sRNA, coordinate gene silencing through interaction with other protein factors (forming the RNA-induced silencing complex, RISC), contributing to endonucleolytic cleavage of the target mRNA and/or influencing the translation process. The increasing number of evidence confirms the participation of AGO proteins in several other cellular processes, such as i.e.: transcription regulation, sequestration, RNA-dependent methylation of DNA, repair of DNA damages, synthesis of siRNA independent of DCL (DICER-like) proteins, or co-transcriptional regulation of MIRNA genes expression and intron splicing. Particular plant species are characterized by the presence of a different number of AGO proteins, in many cases of yet unknown regulatory and/or biological function. This review article covers the current knowledge about the functions of AGOs in cell biology and plant development.
The article describes the mechanism of molecular and pharmacological chaperones in the treatment of inborn errors of metabolism. The literature review of the usage of ambroxol acting as a pharmacological chaperone for be...The article describes the mechanism of molecular and pharmacological chaperones in the treatment of inborn errors of metabolism. The literature review of the usage of ambroxol acting as a pharmacological chaperone for beta-glucocerebrosidase in Gaucher disease and Parkinson’s disease associated with GBA variants has been reviewed.
The invention of CRISPR is considered to be one of the most breakthrough discoveries in recent years in the history of biology, biotechnology, medicine, as well as the pharmaceutical and agricultural industries. The meth...The invention of CRISPR is considered to be one of the most breakthrough discoveries in recent years in the history of biology, biotechnology, medicine, as well as the pharmaceutical and agricultural industries. The methods developed using CRISPR create new, previously unattainable possibilities that can significantly improve the quality of life. From the invention of this intelligent immune system to the present day, much research has been done using the CRISPR/Cas systems. The result of these studies was the development of a modern tool for genetic manipulation, which allows for the introduction of many modifications within the DNA, which may contribute to the silencing of the expression of given genes or their overexpression through e.g. mutations or deletions. The paper describes the application of the method for genetic manipulation with the use of the second class system – CRISPR/Cas9 and the advantages of this method and its advantage over the previously used genetic engineering tools, as well as its limitations and disadvantages, which significantly limit the possibility of its application. The potential use of the method was also presented as well as the research carried out with the use of CRSPR/Cas9.
Conception of a child at advanced parental age (> 35 years) has been steadily increasing in recent decades, especially in developed countries. Socio-economic factors, effective contraceptives, and the availability of Ass...Conception of a child at advanced parental age (> 35 years) has been steadily increasing in recent decades, especially in developed countries. Socio-economic factors, effective contraceptives, and the availability of Assisted Reproduction Technologies (ART) have a direct impact on postponing the decision to have a baby. ART enables reproductive success for people diagnosed as infertile or with reduced possibilities of becoming pregnant due to concomitant pathologies. Epidemiological studies indicate that both advanced parental age and ART are associated with pathologies of pregnancy, such as gestational diabetes, risk of pre-eclampsia, miscarriage, placental abruption, preterm labor, stillbirth, neurodevelopmental disorders and chronic disease of the offspring. In our work, we will focus on the available information on metabolic changes that increase the risk of developing cardiovascular diseases in the offspring of parents at an advanced age and conceived through ART. Finally, we will address the sources of the observed disturbances at the gamete and embryo level, related to oxygen stress, epigenetic modifications and DNA damage, considering possible rescue actions.
Progesterone (P4) is a steroid hormone which participate in many processes in the female reproductive system. The hormone is produced mainly by the corpus luteum (CL), however, also the ovarian follicles, uterine tissues...Progesterone (P4) is a steroid hormone which participate in many processes in the female reproductive system. The hormone is produced mainly by the corpus luteum (CL), however, also the ovarian follicles, uterine tissues and placenta are able to produce P4. Progesterone is involved in the regulation of the sexual cycle, as well as in the initiation and maintenance of pregnancy. The hormone may affect cell function by genomic mechanism, through nuclear P4 receptors (PGR), and via nongenomic mechanism, through the membrane P4 receptors, such as progesterone receptor membrane component (PGRMC) 1 and 2, and membrane progestin receptors (mPR) α, β and γ. The genomic mechanism of P4 action leads to the expression of target genes and the synthesis of new proteins, while the nongenomic mechanism modifies various intracellular signaling pathways. The integration of these two mechanisms of P4 activity leads to the suitable regulation of the cell, tissue and, consequently, the response of organism to the hormone.
Rubisco is an enzyme found in photosynthetic organisms, which catalyse the first step of biomass accumulation: the carbon dioxide incorporation to ribulose-1,5-bisphosphate. Because of Rubisco’s complicated, multimeric s...Rubisco is an enzyme found in photosynthetic organisms, which catalyse the first step of biomass accumulation: the carbon dioxide incorporation to ribulose-1,5-bisphosphate. Because of Rubisco’s complicated, multimeric structure and a presence of many labile structural elements the enzyme cannot assemble to its native quaternary structure by itself. This is why the folding and assembly process of Rubisco requires the strictly organized operation of a number of auxiliary factors. Chaperone proteins take part in folding of holoenzyme subunits, subsequently they mediate in subunit oligomerisation, and in some cases chaperone proteins direct subunits to their cellular destination such as the carboxysomes or the pyrenoid. In addition to their canonical function of mediating Rubisco assembly, these chaperones are involved in additional processes such as quality control of the biosynthetic process, and regulation of organelle physiology and cellular compartments.
G-protein coupled receptors constitute the largest family of membrane receptors and they participate in the maintenance of the homeostasis in the body. Some of these receptors still remain orphan receptors as there is in...G-protein coupled receptors constitute the largest family of membrane receptors and they participate in the maintenance of the homeostasis in the body. Some of these receptors still remain orphan receptors as there is insufficient research and ambiguous evidence concerning their function and endogenous ligands. For a long time, GPR18 belonged to this group, but recently it has been classified as an endocannabinoid receptor due to its affinity to cannabinoid ligands. GPR18 receptor is expressed in the encephalon, thyroid gland, leukocytes, lungs and testicles. The modulatory role of GPR18 receptor has been proven in the regulation of intraocular pressure, neuroimmunomodulation, regulation of arterial blood pressure and in metabolic disorders. In this article we summarize the current knowledge concerning the GPR18 receptor – its expression, ligands and the in the physiological processes and the pathophysiological conditions.
In eukaryotic cells, DNA occurs mainly in a linear chromosomes. In addition, it can also take the form of circular molecules. Mitochondrial and chloroplast genomes are the most thoroughly studied circular DNAs. However,...In eukaryotic cells, DNA occurs mainly in a linear chromosomes. In addition, it can also take the form of circular molecules. Mitochondrial and chloroplast genomes are the most thoroughly studied circular DNAs. However, the repertoire of circular DNA in Eukarya is much broader. It also includes extrachromosomal circular DNA (eccDNA): circular forms of rDNA, telomeric circles, small polydisperse DNA, microDNA, and other types of eccDNA of nuclear origin. The occurrence of eccDNA has been confirmed in all organisms tested so far. Previous studies have shown that some eccDNAs are present at every stage of the cell cycle, while others appear and/or accumulate under specific circumstances. It has been proven that eccDNA accumulation accompanies severe genome destabilization caused by malignancies or stress conditions. Despite growing interest in eccDNA, they remain a poorly understood component of eukaryotic genomes. Still little is known about the mechanisms of their formation, evolution and biological functions.
Nucleoside boranephosphonates are nucleotide analogues in which one of the non-bridging oxygen atom of the phosphate part has been replaced by a borane group (-BH3). This modification imparts a wide spectrum of biologica...Nucleoside boranephosphonates are nucleotide analogues in which one of the non-bridging oxygen atom of the phosphate part has been replaced by a borane group (-BH3). This modification imparts a wide spectrum of biological activity, e.g., activation of ribonuclease H, resistance to endo- and exonucleases, and their respective triphosphates are good substrates for DNA and RNA polymerases. Nucleoside boranephosphonate derivatives are used in antisense therapy, silencing gene expression using siRNA strategies, and as potential antiviral and anti-cancer prodrugs. Boranephosphonates find also applications as aptamers and as substrates in a new method of DNA sequencing. This review briefly presents potential biological applications of nucleoside boranephosphonates.
Unlike vertebrates, plants lack specialized mobile immune cells and antibodies. However, it doesn’t mean that plants are not able to effectively defend themselves against pathogens. In the case of plants, almost every ce...Unlike vertebrates, plants lack specialized mobile immune cells and antibodies. However, it doesn’t mean that plants are not able to effectively defend themselves against pathogens. In the case of plants, almost every cell appears to be able of triggering an effective defense response thanks to the action of the immune system. The latter is well described by zig-zag model proposed by JD Jones and JL Dangle, which encompasses two branches of the plant immune system. Importantly, the zig-zag model, for the first time, has clearly presented the complex interplay between plants and their pathogens, moreover, it is extremely useful from a didactic point of view.
Duchenne muscular dystrophy (DMD) is an X-linked genetic disease affecting approximately 1 in 5,000 born boys. It is caused by mutations in the DMD gene encoding dystrophin, which protects muscle fibers upon contraction....Duchenne muscular dystrophy (DMD) is an X-linked genetic disease affecting approximately 1 in 5,000 born boys. It is caused by mutations in the DMD gene encoding dystrophin, which protects muscle fibers upon contraction. Its absence leads to muscle weakening and premature death mostly due to cardio-respiratory failure. Many experimental therapies have been developed to restore functional dystrophin or counteract processes contributing to disease progression. Nonetheless, DMD remains an incurable disease, and glucocorticoids, exerting many side effects, still serve as the “gold standard” of treatment. Hence, there is a need to develop innovative therapeutic options that will at least alleviate the symptoms of DMD. Among them, targeting specific microRNAs (miRs), e.g. miR-378a, restoring normal angiogenesis and the use of cytoprotective factors such as heme oxygenase-1 (HO-1) or hydrogen sulfide (H2S) might be of special interest. In this review, we describe both the pathology of the disease and the aforementioned new therapeutic options in DMD.
The year 1961 went down in history with exceptional scientific achievements. On May 13, the journal Nature published two articles on the first isolation of messenger ribonucleic acid (mRNA), which is an intermediate prod...The year 1961 went down in history with exceptional scientific achievements. On May 13, the journal Nature published two articles on the first isolation of messenger ribonucleic acid (mRNA), which is an intermediate product between a gene and a protein. Just two weeks later, on May 27, the first letter of the genetic code, phenylalanine, was discovered. These discoveries made it possible to understand how genetic information is encoded and processed, thus causing the dynamic development of molecular biology. The breakthroughs of 1961 concerned not only nucleic acids. On April 12, the first human, Yuri Gagarin, entered space. Eight years later, in 1969, Neil Armstrong made his first walk on the moon, uttering the famous phrase: It is a small step for man, but a great leap for humanity. The era of conquering and learning about the cosmos has begun, mainly motivated by the natural curiosity of man and the desire to learn about the surrounding reality. The environmental factors in space are very different from terrestrial conditions, which raises questions about their effects on living organisms. In search of answers, a variety of scientific research has been carried out at the International Space Station (ISS) for over twenty years. As space travel is set to become more common in the near future, detailed studies of the effects of long-term space missions on the human body are required. These studies are currently carried out, among others using molecular biology techniques that enable detailed analysis of nucleic acids and proteins, but not only. The breakthrough achievements of 1961 initiated the development both in the field of molecular biology and the science of space, thanks to which today, 60 years after those events, we can combine knowledge and technological achievements from both fields to analyze and understand changes at the molecular level that occur as a result of being in organisms in outer space.
Most pathogens enter the body through the surfaces of the mucous membranes, e.g. the nose or the intestines. The mucosal immune response is essential for the effective elimination of invading pathogens. Unfortunately, mo...Most pathogens enter the body through the surfaces of the mucous membranes, e.g. the nose or the intestines. The mucosal immune response is essential for the effective elimination of invading pathogens. Unfortunately, most vaccines which are administered intramuscularly by injection do not induce an adequate protective immune response on mucous membranes. For example, after intramuscular injection, the level of secretory IgA antibodies is low and often insufficient to successfully combat the pathogen. On the other hand, mucosal-induced immunity produces a long-lasting effect in the form of a local and systemic response to the pathogen. Moreover, the administration of such vaccines does not generate hazardous medical waste and their application does not require the presence of qualified medical personnel. Therefore, intensive research into vaccines administered via the mucosal route is ongoing. An obstacle in the development of mucosal vaccines is the natural defense mechanisms of the mucosa, the overcoming of which requires the use of specialized adjuvants. Currently, there are no such formulations on the market.
Ribosomes are macromolecular complexes responsible for translation. During last few years our understanding of their role in the cell was changed. Discoveries showing their variability in the protein composition and rRNA...Ribosomes are macromolecular complexes responsible for translation. During last few years our understanding of their role in the cell was changed. Discoveries showing their variability in the protein composition and rRNA sequence suggested that they can play an active role in the gene regulation, selecting mRNA molecules to be translated and affecting the shape of the proteome. Populations of polimorphic ribosomes are involved in the stress response, virulence and antibiotic sensitivity. Here, I discuss the described and potential functions of ribosomes containing polymorphisms in rRNA molecules, as well as factors limiting the development of research in this field.
Although significant advances have been made in cancer treatment, effective methods of treatment are still limited. Classical chemotherapy is one of the main cancer treatments, but it often causes many side effects that...Although significant advances have been made in cancer treatment, effective methods of treatment are still limited. Classical chemotherapy is one of the main cancer treatments, but it often causes many side effects that may cause non-specific drug action. This is mainly due to the lack of significant differences between cancer and normal cells as well as drug resistance. To reduce the side effects and increase the specificity and the selectivity of chemotherapeutics to cancer cells, new methods of their delivery to tumors are being sought. One of these methods is the application of nanoparticles (NPs), e.g. Quantum Dots (QDs) as drug delivery platforms. This review describes the most popular NPs in chemotherapy, including quantum dots, gold nanoparticles, dendrimers, micelles, and liposomes. The review describes also a strategy of design and synthesis of NPs, mechanism of cellular uptake, as well as intracellular degradation and toxicity of NPs.
Plasmodesmata (PD), discovered more than 120 years ago, are still a mystery about their role in regulating plant cell differentiation. Research in recent years has verified our idea about the structure of PD and their fu...Plasmodesmata (PD), discovered more than 120 years ago, are still a mystery about their role in regulating plant cell differentiation. Research in recent years has verified our idea about the structure of PD and their function in the exchange of information between cells of the plant body. The involvement of PD in the movement of proteins, including transcription factors, hormones, and various types of RNA, indicates that they play an important role in regulating cell differentiation. The movement of molecules through PD is called symplasmic communication, and its limitations or absence are an essential element in controlling the direction of cell differentiation.
Plant cells possess the remarkable ability to adapt to environmental changes. It is manifested by formation of embryos directly from the cells of plant body, bypassing the fertilization stage. These embryo structures dev...Plant cells possess the remarkable ability to adapt to environmental changes. It is manifested by formation of embryos directly from the cells of plant body, bypassing the fertilization stage. These embryo structures develop into complete plants. The process itself, to distinguish the path of formation and emphasize consistency with zygotic embryogenesis, is referred to as somatic embryogenesis (SE). Although more than 60 years have passed since the first publication on the phenomenon has been written, the mechanism of reprogramming of a somatic cell into an embryogenic one is still not fully understood. This is a critical step in SE that can be induced by exo- and endogenous factors and stress treatments. The exposition of plant material to these factors affects the reorganization of the chromatin structure and gene expression, which can consequently trigger the program of embryogenesis. The paper reviews current knowledge on how the identity of totipotent cells is determined and the which stimuli are required to reprogram somatic cell development. Knowledge of key molecular regulators and the network of relationships that control the SE induction is summarized. Issues that are important for enhancing the understanding of the mechanisms underlying totipotency are also defined. Finally, the practical potential of SE is demonstrated, and examples of its use are provided.
Plants possess the ability of indeterminate growth and organogenesis. Uninterrupted development of aerial parts of plants strongly depends on the activity of the shoot apical meristem (SAM), where a pool of undifferentia...Plants possess the ability of indeterminate growth and organogenesis. Uninterrupted development of aerial parts of plants strongly depends on the activity of the shoot apical meristem (SAM), where a pool of undifferentiated stem cells is kept throughout the plant life. The main function of SAM is cell proliferation and self-maintenance. Numerous genes functioning within the SAM have already been discovered, including SHOOTMERISTEMLESS, CLAVATA and WUSCHEL. The biological significance of WUSCHEL gene for specification of the stem cells fate was proven by various, performed over the years experiments. This was doable, also because the research was performed on Arabidopsis thaliana as a model organism. How was the WUSCHEL gene mechanism of action discovered, and subsequently experimentally proven? In this review, we will address these questions, pinpointing also how the use of a model organism enabled WUSCHEL gene functional characterisation.
The suspensor in the majority of angiosperms is an evolutionally conserved embryonic organ functioning as a conduit that connects ovule tissues with the embryo proper for nutrients and growth regulators flux. In this art...The suspensor in the majority of angiosperms is an evolutionally conserved embryonic organ functioning as a conduit that connects ovule tissues with the embryo proper for nutrients and growth regulators flux. In this article the present knowledge on the embryo-suspensor ultrastructure and function in representatives of Crassulaceae genera: Sedum, Jovibarba, Sempervivum, Aeonium, Monanthes, Aichryson and Echeveria. The role of the suspensor in the transport of nutrients from the tissues of the ovule to the proper embryo is confirmed by the structure of the basal cell, especially the nature of the micropylar part of its wall, the "transfer wall". The basal suspensor cell is a site of intense metabolic activity. The special attention is paid to the plasmodesmata. The correlation between types of suspensors and structure of plasmodesmata was investigated. Final conclusions are given and the presented data summarized.