The surface of the unicellular eukaryote, Tetrahymena pyriformis, is covered with thousands of hair-like cilia. These cilia are very similar to cilia of the human olfactory and respiratory tracts making them model organisms for studying cilia function and pathology. The authors of this study investigated the effect of voltage on T. pyriformis galvanotaxis, the movement towards an electrical stimulus. They observed galvanotaxis towards the cathode at voltages over 4V which plateau, indicating opening of voltage gated-ion channels to trigger movement.
The goal of this project was to assess the relationships among low myopia, behavioral and demographic factors, and a single-nucleotide polymorphism (SNP) in the TGFβ1 gene.
Lung cancer is highly fatal, largely due to late diagnoses, but early detection can greatly improve survival. This study developed three models to enhance early diagnosis: an MLP for clinical data, a CNN for imaging data, and a hybrid model combining both.
Glioblastoma Multiforme (GBM) is the most malignant brain tumor with the highest fraction of genome alterations (FGA), manifesting poor disease-free status (DFS) and overall survival (OS). We explored The Cancer Genome Atlas (TCGA) and cBioportal public dataset- Firehose legacy GBM to study DNA repair genes Activating Signal Cointegrator 1 Complex Subunit 3 (ASCC3) and Alpha-Ketoglutarate-Dependent Dioxygenase AlkB Homolog 3 (ALKBH3). To test our hypothesis that these genes have correlations with FGA and can better determine prognosis and survival, we sorted the dataset to arrive at 254 patients. Analyzing using RStudio, both ASCC3 and ALKBH3 demonstrated hypomethylation in 82.3% and 61.8% of patients, respectively. Interestingly, low mRNA expression was observed in both these genes. We further conducted correlation tests between both methylation and mRNA expression of these genes with FGA. ASCC3 was found to be negatively correlated, while ALKBH3 was found to be positively correlated, potentially indicating contrasting dysregulation of these two genes. Prognostic analysis showed the following: ASCC3 hypomethylation is significant with DFS and high ASCC3 mRNA expression to be significant with OS, demonstrating ASCC3’s potential as disease prediction marker.
Evidence suggests certain food preservatives may be genotoxic due to their ability to impair normal cellular pathways. The authors investigated the genotoxic potential and effects of commonly used synthetic food preservatives, specifically sodium nitrite, potassium sulfate, and hydrogen peroxide.
In this study, the authors observe if the symptoms of Rett Syndrome, a neurodegenerative disease in humans, are reflected in Drosophila melanogaster. This was achieved by differentiating the behavior and physical aspects of wild-type flies from flies expressing the full-length MeCP2 gene and the mutated MeCP2 gene (R106W). After conducting these experiments, some of the Rett Syndrome symptoms were recapitulated in Drosophila, and a subset of those were partially ameliorated by the introduction of pifithrin-alpha.
This study explores the link between fingerprints and genetics by analyzing familial fingerprints to show how the fingerprints between family members, and in particular siblings, could be very similar. The hypothesis was that the fingerprints between siblings would be very similar and the dominant fingerprint features within the family would be the same throughout the generations. Fingerprints between the siblings showed a trend of similarity, with only very small differences which makes these fingerprints unique. This work helps to support the link between fingerprints and genetics while providing a modern technological application.
In the United States, there are currently 17.8 million affected by atopic dermatitis (AD), commonly known as eczema. It is characterized by itching and skin inflammation. AD patients are at higher risk for infections, depression, cancer, and suicide. Genetics, environment, and stress are some of the causes of the disease. With the rise of personalized medicine and the acceptance of gene-editing technologies, AD-related variations need to be identified for treatment. Genome-wide association studies (GWAS) have associated the Filaggrin (FLG) gene with AD but have not identified specific problematic single nucleotide polymorphisms (SNPs). This research aimed to refine known SNPs of FLG for gene editing technologies to establish a causal link between specific SNPs and the diseases and to target the polymorphisms. The research utilized R and its Bioconductor packages to refine data from the National Center for Biotechnology Information's (NCBI's) Variation Viewer. The algorithm filtered the dataset by coding regions and conserved domains. The algorithm also removed synonymous variations and treated non-synonymous, frameshift, and nonsense separately. The non-synonymous variations were refined and ordered by the BLOSUM62 substitution matrix. Overall, the analysis removed 96.65% of data, which was redundant or not the focus of the research and ordered the remaining relevant data by impact. The code for the project can also be repurposed as a tool for other diseases. The research can help solve GWAS's imprecise identification challenge. This research is the first step in providing the refined databases required for gene-editing treatment.
Coronary heart disease (CHD) is the leading cause of death in the U.S., responsible for nearly 700,000 deaths in 2021, and is marked by artery clogging that can lead to heart attacks. Traditional prediction methods require expensive clinical tests, but a new study explores using machine learning on demographic, clinical, and behavioral survey data to predict CHD.
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