Fragile X syndrome (FXS) is a global neurodevelopmental disorder caused by the expansion of CGG trinucleotide repeats (≥200) in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene. FXS is the hallmark of Fragile X-associated disorders (FXD) and the most common monogenic cause of inherited intellectual disability and autism spectrum disorder. There are several animal models used to study FXS. In the FXS model of Drosophila, the only ortholog of FMR1, dfmr1, is mutated so that its protein is missing. This model has several relevant phenotypes, including defects in the circadian output pathway, sleep problems, memory deficits in the conditioned courtship and olfactory conditioning paradigms, deficits in social interaction, and deficits in neuronal development. In addition to FXS, a model of another FXD, Fragile X-associated tremor/ataxia syndrome (FXTAS), has also been established in Drosophila. This review summarizes many years of research on FXD in Drosophila models.
Inflammatory bowel disease (IBD), which encompasses two different phenotypes—Crohn’s disease (CD) and ulcerative colitis (UC)—consists of chronic, relapsing disorders of the gastrointestinal tract. In 20–30% of cases, the disease begins in the pediatric age. There have been just a few studies that used fractals for IBD investigation, but none of them analyzed intestinal cell chromatin. The main aim of this study was to assess whether it is possible to differentiate between the two phenotypes in pediatric patients, or either of the phenotypes versus control, using the fractal dimension and lacunarity of intestinal cell chromatin. We analyzed nuclei from at least seven different intestinal segments from each group. In the majority of colon segments, both the fractal dimension (FD) and the lacunarity significantly differed between the UC group and CD group, and the UC group and control group. In addition, the ileocecal valve and rectum were the only segments in which CD could be differentiated from the controls based on the FD. The potential of the fractal analysis of intestinal cell nuclei to serve as an observer-independent histological tool for ulcerative colitis diagnosis was identified for the first time in this study. Our results pave the way for the development of computer-aided diagnosis systems that will assist the physicians in their clinical practice.
7 June 2023 in Journal of Trace Elements in Medicine and Biology
Fragile X syndrome (FXS), the most common monogenic cause of inherited intellectual disability and autism spectrum disorder, is caused by a full mutation (>200 CGG repeats) in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene. Individuals with FXS experience various challenges related to social interaction (SI). Animal models, such as the Drosophila melanogaster model for FXS where the only ortholog of human FMR1 (dFMR1) is mutated, have played a crucial role in the understanding of FXS. The aim of this study was to investigate SI in the dFMR1B55 mutants (the groups of flies of both sexes simultaneously) using the novel Drosophila Shallow Chamber and a Python data processing pipeline based on social network analysis (SNA). In comparison with wild-type flies (w1118), SNA analysis in dFMR1B55 mutants revealed hypoactivity, fewer connections in their networks, longer interaction duration, a lower ability to transmit information efficiently, fewer alternative pathways for information transmission, a higher variability in the number of interactions they achieved, and flies tended to stay near the boundaries of the testing chamber. These observed alterations indicate the presence of characteristic strain-dependent social networks in dFMR1B55 flies, commonly referred to as the group phenotype. Finally, combining novel research tools is a valuable method for SI research in fruit flies.
Essential trace metals (Fe, Zn, Cu, Mn, Mo, Co) are involved in high number of physiological and metabolic activities and therefore have a substantial role in organisms. Thus, their balance is tightly regulated by levels of absorption, transport, and storage in the organism. They can alter human health in both deficiency and overload conditions. On one hand, deficiency health problems are due to reduction of their physiological activities. On the other hand, Fe, Cu and Co are redox active metals and their increase can cause severe tissue damage through oxidative stress. Numerous well-established diseases like iron and copper deficiency anemia, hemochromatosis, Menkes and Wilson disease, acrodermatitis enteropathica are consequence of essential metal alterations. Nowadays, trace metals alterations are also found to be implicated in neurodegenerative disease, cancers, atherosclerosis, and diabetes. Those diseases represent enormous health problems in contemporary society and trace metals might help to further elucidate their pathogenesis and potentially even treatment. In the present study, essential trace metals kinetic and physiology are reviewed, as well as their roles in disease pathophysiology.
Fragile X syndrome (FXS), the most common monogenic cause of inherited intellectual disability and autism spectrum disorder, is caused by a full mutation (>200 CGG repeats) in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene. Individuals with FXS experience a wide range of challenges related to social interaction (SI). Animal models, such as Drosophila melanogaster model for FXS where the only ortholog of human FMR1 (dFMR1) is mutated, have played a crucial role in understanding of FXS. The aim of this study was to investigate SI in the dFMR1B55 mutants using the novel Drosophila Shallow Chamber and a Python data processing pipeline based on social network analysis (SNA). In comparison with wild-type flies (w1118), SNA analysis in dFMR1B55 mutants revealed hypoactivity, fewer connections in their networks, a lower ability to efficiently transmit information, fewer alternative pathways for information transmission, a higher variability in the number of interactions they achieved, and tended to stay near the boundaries of the testing chamber. These observed alterations indicate the presence of characteristic strain-dependent social networks in dFMR1B55 flies, commonly referred to as the group phenotype. Finally, a combination of novel research tools is a valuable method for SI research in fruit flies.