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How Do Genetic Mutations Cause Disease?
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How Do Genetic Mutations Cause Disease?

By Dr. Priyom Bose, Ph.D.Reviewed by Danielle Ellis, B.Sc. Nucleic acids are building blocks of DNA or RNA of any cellular organisms or viruses.1, 2, 3A mutation is a change in the nucleotide sequence of a gene, which may occur due to errors in DNA replication during cell division, viral infection, and exposure to mutagens.4...

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Genetic mutations that promote reproduction tend to shorten human lifespan, study shows

by University of Michigan Credit: Pixabay/CC0 Public Domain A University of Michigan-led study based on a review of genetic and health information from more than 276,000 people finds strong support for a decades-old evolutionary theory that sought to explain aging and senescence. In 1957, evolutionary biologist George Williams proposed that genetic mutations that contribute to aging...

Study uncovers potential new source of genetic mutations that cause neurodegenerative disease
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Study uncovers potential new source of genetic mutations that cause neurodegenerative disease

by University of Plymouth The eCAGr RNA forms cytoplasmic gel-like condensates degraded by the lysosomes. a, Representative images and quantifications of eCAGr RNA condensates (foci) in transfected HEK293T cells expressing the indicated RNA together with MS2CP–YFP as the foci detector. b, Representative images and quantifications of eCAGr RNA foci and the lysosomes in HEK293T cells treated with the...

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New method improves accuracy of DNA sequencing 1,000-fold to detect rare genetic mutations

by Allessandra DiCorato, Broad Institute of MIT and Harvard A team of researchers at the Broad Institute of MIT and Harvard has developed a new approach to next-generation sequencing that detects genetic mutations within single molecules of DNA. The method, called Concatenating Original Duplex for Error Correction (CODEC), makes next-generation sequencing about 1,000 times more accurate and...

Study offers new insights into genetic mutations in autism disorders and points to possible treatments
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Study offers new insights into genetic mutations in autism disorders and points to possible treatments

by Timothy Dean, The Geisel School of Medicine at Dartmouth Graphical abstract. Credit: Cell Reports (2022). DOI: 10.1016/j.celrep.2022.111574 Findings from a new study published in Cell Reports, involving a collaborative effort between researchers at the Luikart Laboratory at Dartmouth’s Geisel School of Medicine and the Weston Laboratory at the University of Vermont, are providing further insight into the...

Tumors with specific genetic mutations show response to immune checkpoint blockade therapy
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Tumors with specific genetic mutations show response to immune checkpoint blockade therapy

by Cleveland Clinic Immune microenvironment of the post-treatment Pole mutant tumors. a, Differentially expressed genes up-regulated or down-regulated in the post-ICB PoleP286R tumors versus the parental tumors. There are 82 DEGs that are consistently upregulated in all ICB treatment arms, while there are 59 genes are consistently downregulated in mutant tumors of all immune checkpoint...

Scientists identify new neurodevelopmental disease caused by genetic mutations
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Scientists identify new neurodevelopmental disease caused by genetic mutations

by  University of Dundee Fig. 1: 3D crystal structure of human OGT with mapped variants. Credit: European Journal of Human Genetics (2020). DOI: 10.1038/s41431-020-0589-9 University of Dundee researchers have discovered a new neurodevelopmental disease caused by genetic mutations and helped explain why patients with these mutations suffer this condition. Around 1% of the global population are affected by intellectual disability, a condition characterized...

Spina bifida can be caused by uninherited genetic mutations
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Spina bifida can be caused by uninherited genetic mutations

by  University College London Credit: CC0 Public Domain Genetic mutations which occur naturally during the earliest stages of an embryo’s development can cause the severe birth defect spina bifida, finds a new experimental study in mice led by UCL scientists. The research, published in Nature Communications, explains for the first time how a ‘mosaic mutation’ – a mutation which...

Defeating pathological autoimmunity with kinase inhibition
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Defeating pathological autoimmunity with kinase inhibition

by John Hewitt , Medical Xpress Credit: Wikipedia Autoinflammatory syndromes are often the result of genetic mutations that ultimately compromise neutrophils, macrophages and other cells of the innate immune system. Rather than showering sufferers with broad immunosuppressives, a more satisfactory response can frequently be obtained using select anti-inflammatory drugs like anti-TNF or anti-IL-1β. A similar...

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Induced pluripotent stem cells don't increase genetic mutations

Induced pluripotent stem cells (iPSCs) — stem cells that are capable of differentiating into one of many cell types — are a technique that opens the doors to medical advances, including generating cartilage cell tissue to repair knees, …more   It’s been more than 10 years since Japanese researchers Shinya Yamanaka, M.D., Ph.D., and his graduate...