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.

Treatments inhibiting Notch signaling pathways have been explored by researchers as a new approach for the treatment of glioblastoma tumors, which is a fast-growing and aggressive brain tumor. Recently, retinoic acid (RA) therapy, which inhibits Notch signaling, has shown a promising effect on inhibiting glioblastoma progression. RA, which is a metabolite of vitamin A, is very important in embryonic cellular development, which includes the regulation of multiple developmental processes, such as brain neurogenesis. However, high doses of RA treatment caused many side effects such as headaches, nausea, redness around the injection site, or allergic reactions. Therefore, we hypothesized that a combination treatment of RA and siRNA targeting NOTCH1 (siNOTCH1), the essential gene that activates Notch signaling, would effectively inhibit brain cancer cell proliferation. The aim of the study was to determine whether inhibiting NOTCH1 would inhibit the growth of brain cancer cells by cell viability assay. We found that the combination treatment of siNOTCH1 and RA in low concentration effectively decreased the NOTCH1 expression level compared to the individual treatments. However, the combination treatment condition significantly decreased the number of live brain cancer cells only at a low concentration of RA. We anticipate that this novel combination treatment can provide a solution to the side effects of chemotherapy.

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.

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.

In this study, the authors investigate whether Eisenia Fetida nerve signal speed correlates with Withania somnifera ingestion, a possible way to protect against demyelination.

In an extensive study of gene mutations, and their resulting effect on protein-protein interactions, Desai and Stork found that HTT-PRPF40B-MECP2 interactions are weakened with progression of Lopes-Maciel-Rodan syndrome.

Cancer is often caused by improper function of a few proteins, and sometimes it takes only a few proteins to malfunction to cause drastic changes in cells. Here the authors look at the genes that were mutated in patients with a type of pancreatic cancer to identify proteins that are important in causing cancer. They also determined which proteins currently lack effective treatment, and suggest that certain proteins (named KRAS, CDKN2A, and RBBP8) are the most important candidates for developing drugs to treat pancreatic cancer.

Bennett and Joykutty test whether growth hormone directly or indirectly affected the rate at which cartilage renewed itself. Growth hormone could exert a direct effect on cartilage or chondrocytes by modifying the expression of different genes, whereas an indirect effect would come from growth hormone stimulating insulin-like growth factor. The results from this research support the hypothesis that growth hormone increases proliferation rate using the direct pathway. This research can be used in the medical sciences for people who suffer from joint damage and other cartilage-related diseases, since the results demonstrated conditions that lead to increased proliferation of chondrocytes. These combined results could be applied in a clinical setting with the goal of allowing patient cartilage to renew itself at a faster pace, therefore keeping those patients out of pain from these chondrocyte-related diseases.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder and is difficult to diagnose in young children. Here magnetoencephalography was used to compare the brain activity in patients with ASD to patients in a control group. The results show that patients with ASD have a high level of activity in different areas of the brain than those in the control group.

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).