mutations

Scientists have discovered that mutations in mitochondrial DNA can predict a patient’s response to immunotherapy, potentially leading to more personalized and effective cancer treatments. Credit: SciTechDaily.comA groundbreaking study shows that mitochondrial DNA mutations are key indicators of a patient’s likelihood to respond to immunotherapy, revolutionizing cancer treatment approaches.Cancer Research UK-funded scientists have made an unusual discovery that could help to identify patients who are up to two and a half…

Nutrient-sensing…

Researchers have discovered that mice possess a natural form of gene therapy, a non-coding RNA that can sidestep genetic mutations. They were able to engineer a programmable version that recognized specific genetic mutations and might be used to treat genetic diseases in humans.Before they become mature messenger RNAs (mRNAs), pre-mRNAs are modified inside the cell’s nucleus. Introns, the non-coding sections of RNA, are removed, and exons – the coding sections – are spliced together to form a mature mRNA. The mature mRNA…

A new research study has revealed a correlation between schizophrenia and somatic copy-number variants—genetic mutations that occur post-inheritance. This marks one of the initial studies to demonstrate a link between somatic mutations and schizophrenia risk.A study in Cell Genomics has found a link between somatic genetic mutations and schizophrenia. Researchers analyzed over 20,000 blood samples, identifying genes NRXN1 and ABCB11 as associated with schizophrenia when disrupted during fetal development. The finding…

Mutations in the Foxp2 gene disrupt neuron function, causing an overproduction of a protein, dynactin1. This imbalance affects motor proteins, impairing molecule transportation within cells and hindering formation of synapses and dendrites. These changes lead to the speech disorder apraxia, according to a study by MIT and National Yang Ming Chiao Tung University.Faulty versions of the Foxp2 gene disrupt neurons’ ability to form synapses in brain regions involved in speech, a new study shows.Mutations of a gene called…

Researchers from Kyushu University and Nagoya University School of Medicine have developed an optimized genome-editing method that significantly reduces unwanted mutations and toxicity in CRISPR-Cas9. The new technique, called “safeguard gRNA” (gRNA), demonstrates potential for safe and efficient gene therapy, with applications in treating genetic diseases like fibrodysplasia ossificans progressiva.CRISPR-Cas9 is a prevalent genome-editing technique utilized for investigating specific genes and modifying genes related to…

A human blastocyst-like synthetic embryo called blastoid showing the presence of an enveloping layer of extra-embryonic cells, a blastocoel-like cavity, epiblast cells (green, giving rise to the future embryo) and hypoblast cells (red, giving rise to the future amnion). iMiGSeq was used to sequence mtDNA in a single blastoid to model the dynamics of mtDNA mutations during human embryogenesis. Credit: © 2023 KAUST; Mo LiA high-throughput single-cell single-mitochondrial genome sequencing technology known as iMiGseq has…

Genetic mutations can alter how the proteins produced by our genes function and can lead to diseases like cancer. Now researchers have used the gene-editing technology CRISPR/Cas 9 in a less commonly used way, producing liver cancer tumors to better understand the genetic mutations underlying them.Genes contain the information required to produce proteins. Splicing is the process by which an RNA message copied from information encoded in a gene is edited before it’s used as a blueprint to make a specific protein.Proteins…

The figure shows the interactions between immune cells (white) and tumor cells harboring persistent mutations (red) in the context of immunotherapy (white) as a chess match captured in 5 snapshots. The piece placement is pulled from a Kasparov vs Deep Blue game. Credit: Christina Kostandi and Valsamo AnagnostouCancer specialists have attempted to utilize the number of mutations in a tumor, known as the tumor mutation burden (TMB), to forecast a patient’s response to immunotherapy, with varying degrees of success.…

By Max Delbrück Center for Molecular Medicine in the Helmholtz Association March 16, 2023The researchers have devised a computational analysis method to detect and distinguish the functional impacts of somatic structural variations.Cancer is a complex and diverse disease, and its range of associated mutations is vast. The combination of these genomic changes in an individual is referred to as their “mutational landscape.” These landscapes vary based on the type of cancer, and even individuals with the same type of cancer…