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Mutation - Springer Nature

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Last Updated: 04 June 2022

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Anxiety and depression among racial/ethnic minorities and impoverished women testing positive for BRCA1/2 mutations in the United States

"Purpose To establish high-risk groups of mutation carriers from medically underserved backgrounds, identify high-risk groups of mutation carriers from medically underserved backgrounds and establish the correlation between race/ethnicity and poverty status, perceived anxiety and depressive symptoms among BRCA1/2-positive United States women. " Women with BRCA1/2 mutations were 6. 11 times more likely to experience moderate-to-severe anxiety and 4. 28 times more likely to have moderate-to-severe depression, than NHW women with these mutations. Women living in poverty were less likely to experience moderate-to-severe depression than those who were not. Conclusion Hispanic women with BRCA1/2 mutations from medically underserved backgrounds are a significant population at risk of more anxiety and depressive symptoms. Our findings among Hispanic women with BRCA1/2 mutations contribute to the growing body of literature on ethnic differences in the cancer control continuum.

Source link: https://doi.org/10.1007/s00520-022-07004-7


Transient expression of an adenine base editor corrects the Hutchinson-Gilford progeria syndrome mutation and improves the skin phenotype in mice

"Hutchinson-Gilford progeria syndrome is a rare premature ageing disorder caused by a point mutation in the LMNA gene that has resulted in the production of a toxic protein called progerin. " Adenine base editors recently emerged with a promising potential for HGPS gene therapy, which is promising for HGPS gene therapy. To correct the HGPS mutation in the skin of HGPS mice, we use a non-integrative transient lentiviral vector system. The transformation was corrected in 20. 8-24. 1% of the skin cells by a transient adenine base editor. The HGPS skin phenotype was improved, and clusters of progerin-negative keratinocytes were discovered, indicating that the mutation was corrected in both progenitor and differentiated skin cells. These results show that transient non-integrative viral vector mediated adenine base editor expression, a viable target for future gene editing efforts. ".

Source link: https://doi.org/10.1038/s41467-022-30800-y


Fundamental immune–oncogenicity trade-offs define driver mutation fitness

"A mathematical framework to determine the fitness of cancer driver mutations by including mutational bias, oncogenicity, and immunogenicity is one of the key trade-offs in cancer evolution. " We recommend a unified theoretical framework for the fitness gains conferred on cancer cells by driver gene mutations, as well as multimodal genomic, epigenetic, transcriptomic, and proteomic results. We present an estimation of mutant p53 levels in cancer, as the most mutated gene in cancer, 1, and we show that TP53 hotspot mutations optimally resolve a evolutionary trade-off between oncogenic ability and neoantigen immunogenicity. Patient survival is anticipated in The Cancer Genome Atlas and patients with lung cancer treated with immunotherapy, as well as the age of tumor onset in germline carriers of TP53 variants, according to Our model.

Source link: https://doi.org/10.1038/s41586-022-04696-z


HER2 G776S mutation promotes oncogenic potential in colorectal cancer cells when accompanied by loss of APC function

"Clinical cancer genome sequencing identifies oncogenic variants that are likely targets for cancer therapy, but also finds variants of unknown significance. " In this research, we investigated the biological characteristics of a HER2 mutation of uncertain pathological significance, which was detected simultaneously with APC mutation by cancer genome sequencing of samples from a colorectal cancer patient. The HER2 protein transfection alone increased kinase activity and phosphorylation of HER2 protein by a small amount, but did not trigger HER2 downstream signaling or change the cell phenotype. ".

Source link: https://doi.org/10.1038/s41598-022-13189-y


Combined in Silico Prediction Methods, Molecular Dynamic Simulation, and Molecular Docking of FOXG1 Missense Mutations: Effect on FoxG1 Structure and Its Interactions with DNA and Bmi-1 Protein

"FoxG1 encoded by FOXG1 gene is a transcriptional factor that interacts with target genes' DNA as well as many proteins to regulate forebrain formation. ' Mutations in the FOXG1 gene have been shown to cause a variety of brain disorders, including the congenital variant of Rett syndrome. FOXG1 gene direct sequencing revealed a novel c. 645C > A variant in the patient P1 and a de novo known one c. 755G > A in the patient P2. F215L and G252D variants found in the DNA binding domain are highly deleterious mutations that may contribute to protein structure destabilization, according to bioinformatics analysis and molecular dynamics simulation. On the other hand, molecular docking indicated that the F215L mutant is likely to have a major effect on destabilizing the protein structure and disruption of the Bmi-1 binding site. ".

Source link: https://doi.org/10.1007/s12031-022-02032-8


Comprehensive characterization of posttranscriptional impairment-related 3′-UTR mutations in 2413 whole genomes of cancer patients

"We obtained whole-genome data from 2413 patients across 18 cancer types to investigate the posttranscriptional role of 3u2032-UTR somatic mutations in tumorigenesis. " Moreover, we investigated immune cell and checkpoint characteristics among the high/low 3u2032-UTR piSNV ratio groups and predicted 80 compounds associated with the 3u2032-UTR piSNV-affected gene expression signature. Our analysis showed that in addition to affecting miRNAs and clinical value of 3u2032-UTR piSNVs in cancers, we also showed that not only can they affect miRNAs, but that regardless of targeting miRNAs, 3u2032-UTR piSNVs impair RBPs binding, APA and m6A RNA modification, which underscored the importance of considering 3u2032-UTR piSNVs in cancer biology.

Source link: https://doi.org/10.1038/s41525-022-00305-0


Carriage of mutations R462Q (rs 486907) and D541E (rs 627928) of the RNASEL gene and risk factors in patients with prostate cancer in Burkina Faso

"Background Prostate cancer is a public health disease that affects men, mostly of middle age or older. " In Burkina Faso, the RNASEL gene, which has been found in 1q25 and classified as a susceptibility gene to hereditary prostate cancer, has never been studied in relation to prostate cancer. In patients with prostate cancer in Burkina Faso, the aim of this study was to determine the carriage of RNASEL R462Q and D541E mutations and risk factors. Methods This case U2013Control research included 38 histologically diagnosed prostate cancer cases and 53 controls. There is no relationship between R462Q variants and D541E variants and genotypes mixed with prostate cancer. Just 13. 2% of cases have a Gleason score higher than 7. "There is a statistically significant difference in the Gleason score distribution of cases. ".

Source link: https://doi.org/10.1186/s12920-022-01279-9


In silico identification of the rare-coding pathogenic mutations and structural modeling of human NNAT gene associated with anorexia nervosa

"Purpose Increased susceptibility to anorexia nervosa was demonstrated with decreased amounts of neuronatin gene. " We wanted to determine the most pathogenic rare-coding mutations, non-synonymous single-nucleotide polymorphisms of NNAT, and their potential detrimental effects on protein function by transcript level sequence and structure based in silico approaches. SNPs were used to perform transcript level SNPs analysis and to identify high-risk rare-coding nsSNPs, as well as their effect on protein stability, according to the author's comment on protein stability. The drugs have been estimated using binding free energies for pharmaceutical pharmaceuticals since the establishment of drug-likeness by the court of appeal. With mutant models C30Y, the 3D-modeling study of AN drug u2019 binding energies revealed the lowest binding free energy and significant inhibition constant. Conclusions Mutant model exhibits strong drug binding affinity and the first interaction at the acetylation site K59" shows significant interaction.

Source link: https://doi.org/10.1007/s40519-022-01422-6


Splicing mutations in the CFTR gene as therapeutic targets

"The marketing acceptance of the first disease modulator for patients with cystic fibrosis harboring specific CFTR genotypes gave new hope for their therapy. However, patients with splicing mutations affecting their CFTR genotype do not qualify for any of the currently available CFTR modulator therapies, particularly patients with splicing mutations. We present some examples of CFTR advancements that impact splicing operations and the various therapeutic options that are currently developed and tested for splice switching in this article.

Source link: https://doi.org/10.1038/s41434-022-00347-0

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions