Tag: <span>Mutation</span>

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The mutation that helps Delta spread like wildfire
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The mutation that helps Delta spread like wildfire

SARS-CoV-2 coronavirus particles isolated from a US case of COVID-19. Scientists are trying to understand why the Delta variant spreads so quickly.Credit: National Institutes of Health/Science Photo LibraryAs the world grapples with the hyper-infectious Delta coronavirus variant, scientists are racing to understand the biological basis for its behaviour.A slew of studies has highlighted an amino-acid...

New approach to gene therapy can correct any disease-causing mutation within a gene
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New approach to gene therapy can correct any disease-causing mutation within a gene

by Gail McCormick,  Pennsylvania State University Credit: CC0 Public Domain A new approach to gene editing using the CRISPR/Cas9 system bypasses disease-causing mutations in a gene, enabling treatment of genetic diseases linked to a single gene, such as cystic fibrosis, certain types of sickle cell anemia, and other rare diseases. The method, developed and tested in...

Cause of Alzheimer’s disease traced to mutation in common enzyme
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Cause of Alzheimer’s disease traced to mutation in common enzyme

TOKYO METROPOLITAN UNIVERSITY IMAGE: THE MUTANT MARK4 CREATES A FORM OF TAU WHICH ACCUMULATES EASILY IN BRAIN CELLS, CAUSING NEURONS TO DIE. Tokyo, Japan – Researchers from Tokyo Metropolitan University have discovered a new mechanism by which clumps of tau protein are created in the brain, killing brain cells and causing Alzheimer’s disease. A specific mutation to...

Mutation leading to biological changes may play role in cancer
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Mutation leading to biological changes may play role in cancer

by Marie Moucarry,  McGill University Killer T cells surround a cancer cell. Credit: NIH A new study from McGill University’s Goodman Cancer Research Center (GCRC) has revealed significant biological changes in mice expressing an activated, mutant form of the Estrogen Receptor alpha (ER alpha), shedding new light on the role of this important gene in development...

Mutation’s role in blood cancers revealed by ideal team-up
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Mutation’s role in blood cancers revealed by ideal team-up

by Cold Spring Harbor Laboratory A genetic mutation that disrupts how DNA sends messages to the rest of a cell has been linked to a large number of blood cancers. Thanks to a collaboration between biologists at Cold Spring Harbor Laboratory (CSHL) and an oncologist at Memorial Sloan Kettering Cancer Center (MSKCC), we now know...

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Escaping Alzheimer’s

There is, in Colombia, a family with a tragic legacy of forgetfulness. “People in this large family get Alzheimer’s like clockwork at age 45-50,” said UC Santa Barbara neuroscientist Kenneth S. Kosik, the campus’s Harriman Professor of Neuroscience and co-director of the Neuroscience Research Institute. Their aggressive, genetic form of the disease has been passed...

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Gene editing enables researchers to correct mutation in muscle stem cells in DMD model

by University of Missouri Duchenne muscular dystrophy (DMD) is a rare but devastating genetic disorder that causes muscle loss and physical impairments. Researchers at the University of Missouri School of Medicine have shown in a mouse study that the powerful gene editing technique known as CRISPR may provide the means for lifelong correction of the...

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What is an MTHFR mutation?

By Jamie Eske Reviewed by Shilpa Amin MD, CAQ, FAAFP Methylenetetrahydrofolate reductase, or MTHFR, is an enzyme that breaks down the amino acids homocysteine and folate. The MTHFR gene that codes for this enzyme has the potential to mutate, which can either interfere with the enzyme’s ability to function normally or completely inactivate it. People have...

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Study sheds light on the function of a long-mysterious PCSK9 mutation

Results build on developing model of new druggable PCSK9 interactor AMERICAN SOCIETY FOR BIOCHEMISTRY AND MOLECULAR BIOLOGY High levels of low-density lipoproteins, parcels of lipids and protein that carry cholesterol, are a leading risk factor for heart disease. Many cholesterol medications lower LDL, some of them by targeting the protein PCSK9. In the January issue of the...

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Study finds mutation driving deadlier brain tumors and potential therapy to stop it

July 9, 2018, Perelman School of Medicine at the University of Pennsylvania A poorly understood mutation in the brain cancer glioblastoma (GBM) is now being implicated for the first time as the driver of rare but deadlier cases of the disease, a team of researchers from the Perelman School of Medicine at the University of Pennsylvania and the...