by Karl Landsteiner University of Health Sciences Credit: Journal of Neurochemistry (2024). DOI: 10.1111/jnc.16197 A recent study has uncovered the intricate ways in which a rare genetic mutation impacts brain cell communication, providing critical insights into the causes of a severe neurological disorder known as developmental and epileptic encephalopathy (DEE). The findings reveal that this specific mutation...
Tag: <span>Genetic mutation</span>
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Researchers identify genetic mutations for rare disorder causing cognitive decline
September 24, 2024 by Mayo Clinic The countries where the disease was reported by 2018 are shown in blue. The countries where the disease was reported between 2018 and 2023 are shown in yellow. The newly reported countries are shown in red. Credit: Neurology Genetics (2024). DOI: 10.1212/NXG.0000000000200187A rare cause of hereditary cognitive decline known...
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Newly discovered genetic mutation protects against Parkinson’s disease and offers hope for new therapies
by University of Southern California Credit: Unsplash/CC0 Public DomainA previously unidentified genetic mutation in a small protein provides significant protection against Parkinson’s disease and offers a new direction for exploring potential treatments, according to a new USC Leonard Davis School of Gerontology study. The variant, located in a mitochondrial microprotein dubbed SHLP2, was found to be...
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Study: Rare genetic mutation appears to have protected second person from early Alzheimer’s
By Andrew Joseph May 15, 2023 PET imaging of the brain of a man who appears to have been genetically protected against early Alzheimer’s.JUSTIN SANCHEZ For the second time in one extended family, researchers have identified a person who seemed genetically destined to develop early Alzheimer’s, but remained cognitively sound for several more decades. Like...
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Deep learning empowers discovery of new genetic mutation in cancer
by Will Doss, Northwestern University EagleC predicts a full range of high-resolution SVs from chromatin interaction data. (A) Workflow of the EagleC framework. (B to G) Examples showing different types of SVs predicted by EagleC. The black dashed circle indicates the SV breakpoint position in each case. The resolution of each Hi-C map is labeled...
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Rare genetic mutation linked to risk of severe viral infection in Polynesian populations
New research from an international collaboration, including researchers from the Garvan Institute of Medical Research, has identified a rare genetic mutation in people of Polynesian descent, which increases their risk of severe viral infection or death. Researchers studied the highly unusual cases of seven Polynesian previously healthy children. Still, they developed severe or fatal reactions...
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Researchers introduce into human cells a genetic mutation that protects against Alzheimer’s disease
by Laval University Credit: Pixabay/Pete Linforth. Researchers from the Université Laval Faculty of Medicine and CHU de Québec–Université Laval Research Center have successfully edited the genome of human cells grown in vitro to introduce a mutation providing protection against Alzheimer’s disease. The details of this breakthrough were recently published in The CRISPR Journal. “Some genetic mutations increase the...
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Chronic obstructive pulmonary disease: A genetic mutation confirmed as predisposing factor
by Pasteur Institute Airway basal cells from an animal model in culture marked red by cytokeratin 14 (a specific marker). The nuclei are stained blue with DAPI, a fluorescent molecule. Credit: Integrative Neurobiology of Cholinergic Systems Unit at the Institut Pasteur In 2019, the WHO positioned chronic obstructive pulmonary disease (COPD) third in the global...
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Impairments found in neurons derived from people with schizophrenia and genetic mutation
by Patty Shillington, University of Massachusetts Amherst Researchers created neurons from cell specimens donated by schizophrenia patients with a rare genetic mutation. Credit: UMass Amherst A scientific team has shown that the release of neurotransmitters in the brain is impaired in patients with schizophrenia who have a rare, single-gene mutation known to predispose people to a range...
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Major advance enables study of genetic mutations in any tissue
WELLCOME TRUST SANGER INSTITUTE For the first time, scientists are able to study changes in the DNA of any human tissue, following the resolution of long-standing technical challenges by scientists at the Wellcome Sanger Institute. The new method, called nanorate sequencing (NanoSeq), makes it possible to study how genetic changes occur in human tissues with...
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