Cystic fibrosis is a genetic disease caused by mutations in the CFTR gene. In this paper, the authors attempt to identify variations in stretches of up to 8 nucleotides in the protein-coding portions of the CFTR gene that are associated with disease development. This would allow screening of newborns or even fetuses in utero to determine the likelihood they develop cystic fibrosis.
Here the authors used morphological characters and DNA barcoding to identify arthropods found within a residential house. With this method they identified their species and compared them against pests lists provided by the US government. They found that none of their identified species were considered to be pests providing evidence against the misconception that arthropods found at home are harmful to humans. They suggest that these methods could be used at larger scales to better understand and aid in mapping ecosystems.
Human immunodeficiency virus (HIV), which affects tens of millions of individuals worldwide, can lead to acquired immunodeficiency syndrome (AIDS). While there is currently no cure for HIV, the development of small molecule antiretroviral agents has greatly improved the prognosis of infected individuals, especially in developed countries. Here, the authors employ homology modeling and molecular docking towards the identification of novel rilpivirine analogs that retain high binding affinity to clinically relevant rilpivirine-resistant mutations of the HIV reverse transcriptase enzyme.
Ultraviolet (UV) radiation is known to alter DNA structure and impair cellular function in all living organisms. In this study, Lateef et al examine the effects of UV radiation to determine whether antioxidant-enriched nutrition can combat the potential deleterious effects of UV radiation on Drosophila melanogaster. They found that UVB (320nm) radiation caused a 59% decrease in the Drosophila lifespan and mutagenic effects on flies' physical appearance, but did not significantly affect fertility. Curcumin significantly prolonged lifespan and enhanced fertility for both UV- and non-UV-exposed flies. The research demonstrates the positive potential of natural antioxidants as weapons against radiation-induced diseases including cancer.
Malaria is a major public health issue, especially in developing countries, and vector control is a major facet of malaria eradication efforts. Recently, sterile insect technique (SIT), or the release of sterile mosquitoes into the wild, has shown significant promise as a method of keeping vector populations under control. In this study, the authors investigate the Anopheles gambiae transglutaminase 3 protein (AgT3), which is essential to the mating of the Anopheles mosquito. They show that an active site mutation is able to abolish the activity of the AgT3 enzyme and propose it as a potential target for chemosterilant inhibitors.
Sequence accessibility is an important factor affecting gene expression. Sequence accessibility or openness impacts the likelihood that a gene is transcribed and translated into a protein and performs functions and manifests traits. There are many potential factors that affect the accessibility of a gene. In this study, our hypothesis was that the content of nucleotides in a genetic sequence predicts its accessibility. Using a machine learning linear regression model, we studied the relationship between nucleotide content and accessibility.
Berberine is a natural quaternary alkaloid that has anti-microbial and anti-cancer effects. This compound can bind to Guanine Quadruplex (G4) DNA secondary complexes to help inhibit cancer cell proliferation. In this study, the authors investigate whether incorporating large aromatic rings helps to stabilize berberine-G4 interactions.
Although the United States maintains millions of square kilometers of nature reserves to protect the biodiversity of the specimens living there, little is known about how confining these species within designated protected lands influences the genetic variation required for a healthy population. In this study, the authors sequenced genetic barcodes of insects from a recently established nature reserve, the Southwestern Riverside County Multi-Species Reserve (SWRCMSR), and a non-protected area, the Mt. San Jacinto College (MSJC) Menifee campus, to compare the genetic variation between the two populations. Their results demonstrated that the midge fly population from the SWRCMSR had fewer unique DNA barcode sequence changes than the MSJC population, indicating that the comparatively younger nature reserve's population had likely not yet established its own unique genetic drift changes.
One important factor that contributes to human cancers is accumulated damage to cells' DNA due to the oxidative stress caused by free radicals. In this study, the authors investigate the effects of several different tea leaf extracts on oxidative stress in cultured human prostate cells to see if antioxidants in the tea leaves could help protect cells from this type of DNA damage. They found that all four types of tea extract (as well as direct application of the antioxidant EGCG) improved the outcomes for the cultured cells, with white tea extract having the strongest effect. This research suggests that tea extracts and the antioxidants that they contain may have applications in the treatment of the many diseases associated with cellular DNA damage, including cancer.
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.