Uveal melanoma (UM) is a rare subtype of melanoma but the most frequent primary cancer of the eye in adults. The goal of this study was to research the genetic causes of UM through a comprehensive frequency analysis of base-pair mismatches in patient genomes. Results showed a total of 130 genetic mutations, including seven recurrent mutations, with most mutations occurring in chromosomes 3 and X. Recurrent mutations varied from 8.7% to 17.39% occurrence in the UM patient sample, with all mutations identified as missense. These findings suggest that UM is a recessive heterogeneous disease with selective homozygous mutations. Notably, this study has potential wider significance because the seven genes targeted by recurrent mutations are also involved in other cancers.
Read More...Browse Articles
Upregulation of the Ribosomal Pathway as a Potential Blood-Based Genetic Biomarker for Comorbid Major Depressive Disorder (MDD) and PTSD
Major Depressive Disorder (MDD), and Post-Traumatic Stress Disorder (PTSD) are two of the fastest growing comorbid diseases in the world. Using publicly available datasets from the National Institute for Biotechnology Information (NCBI), Ravi and Lee conducted a differential gene expression analysis using 184 blood samples from either control individuals or individuals with comorbid MDD and PTSD. As a result, the authors identified 253 highly differentially-expressed genes, with enrichment for proteins in the gene ontology group 'Ribosomal Pathway'. These genes may be used as blood-based biomarkers for susceptibility to MDD or PTSD, and to tailor treatments within a personalized medicine regime.
Read More...Simulations of Cheetah Roaming Demonstrate the Effect of Safety Corridors on Genetic Diversity and Human-Cheetah Conflict
Ecological corridors are geographic features designated to allow the movement of wildlife populations between habitats that have been fragmented by human landscapes. Corridors can be a pivotal aspect in wildlife conservation because they preserve a suitable habitat for isolated populations to live and intermingle. Here, two students simulate the effect of introducing a safety corridor for cheetahs, based on real tracking data on cheetahs in Namibia.
Read More...Mapping QTLs for Popping Ability in a Popcorn × Dent Maize Genetic Cross
Have you ever wondered what contributes to the popping ability of popcorn? In this study, the authors use Quantitative Trait Locus (QTL) mapping to identify genes that may contribute to specific popping characteristics including kernel size and popping expansion volume (PEV).
Read More...String analysis of exon 10 of the CFTR gene and the use of Bioinformatics in determination of the most accurate DNA indicator for CF prediction
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.
Read More...Can Children Acquire Their Parents’ History of Fracture?
While the genetic basis of hip fracture risk has been studied extensively in adults, it is not known whether parental history of bone fractures affects their children's fracture risk. In this article, the authors investigated whether a parental history of bone fractures influences the rate of fractures in their children. They found that adolescent children whose parents had a more extensive history of fractures were more likely to have a history of fractures themselves, suggesting that parents' medical histories may be an important consideration in future pediatric health research.
Read More...The effect of Omega-3 on bovine blood cells as a potential remedy for Cerebral Cavernous Malformations
Here, the authors investigated if dietary Omega-3 fatty acids could reduce the potential for cerebral cavernous malformations, which are brain lesions that occur due to a genetic mutation where high membrane permeability occurs between endothelial cell junctions. In a bovine-based study where some cows were fed an Omega-3 diet, the authors found the membranes of bovine blood cells increased in thickness with Omega-3 supplementation. As a result, they suggest that dietary Omega-3 could be considered as a possible preventative measure for cerebral cavernous malformations.
Read More...siRNA-dependent KCNMB2 silencing inhibits lung cancer cell proliferation and promotes cell death
Here, seeking to better understand the genetic associations underlying non-small cell lung cancer, the authors screened hundreds of genes, identifying that KCNMB2 upregulation was significantly correlated with poor prognoses in lung cancer patients. Based on this, they used small interfering RNA to decrease the expression of KCNMB2 in A549 lung cancer cells, finding decreased cell proliferation and increased lung cancer cell death. They suggest this could lead to a new potential target for lung cancer therapies.
Read More...Characterization and Phylogenetic Analysis of the Cytochrome B Gene (cytb) in Salvelinus fontinalis, Salmo trutta and Salvelinus fontinalis X Salmo trutta Within the Lake Champlain Basin
Recent declines in the brook trout population of the Lake Champlain Basin have made the genetic screening of this and other trout species of utmost importance. In this study, the authors collected and analyzed 21 DNA samples from Lake Champlain Basin trout populations and performed a phylogenetic analysis on these samples using the cytochrome b gene. The findings presented in this study may influence future habitat decisions in this region.
Read More...Innovative Treatment for Reducing Senescence and Revitalizing Aging Cells through Gene Silencing
Cellular senescence plays a key role in aging cells and is attributed to a number of disease and pathology. These authors find that genetic editing of both RPS6KB1 and PPARGC1A revitalizes a human skin fibroblast cell line.
Read More...