by Centro Nacional de Investigaciones Cardiovasculares Carlos III (F.S.P.) Aging is associated with a higher frequency of somatic mutations that drive clonal hematopoiesis, particularly mutations in DNMT3A and TET2, which, in the presence of HF with reduced LVEF, result in accelerated progression of the disease in terms of HF-related mortality and acute HF decompensations leading...
by Uppsala University Credit: Uppsala University Mutations in the neurochondrin (NCDN) gene can cause epilepsy, neurodevelopmental delay and intellectual disability. The gene mutation significantly impairs contacts and signaling between neurons in the brain. This is the conclusion of a study led from Uppsala University and published in the American Journal of Human Genetics. “The mutation may provide...
by Trinity College Dublin Glial fibrillary acidic protein (GFAP) and Claudin-5 staining of an affected cell. Credit: Trinity College Dublin. Scientists at Trinity College Dublin today announced a significant advance in our understanding of an early onset form of dementia that may also progress our understanding of conditions such as Alzheimer’s disease. Adult onset Leukoencephalopathy with...
Here, researchers explore the mechanisms governing changes in cell behavior during reprogramming. Many of the aspects of aging found in cells taken from old tissues can be reversed via the process of reprogramming these cells into induced pluripotent stem cells. Mitochondrial function is restored to youthful levels, for example, as well as much of the epigenetic signature that determines protein production and...
by University of Exeter Credit: CC0 Public Domain Pioneering new research has made a pivotal breakthrough that dispel concerns that human stem cells could contain cancer-causing mutations. A team of scientists from the University of Exeter’s flagship Living Systems Institute has shown that stem cells contain no cancer mutations when they are grown in their most primitive or...
by Sarah C.p. Williams, Broad Institute of MIT and Harvard As people grow older, certain genetic mutations in hematopoietic stem cells (HSCs)—which give rise to blood and immune cells—can eventually cause cancer or predispose people to cardiovascular disease. Now, two teams of scientists at the Broad Institute of MIT and Harvard, Massachusetts General Hospital, Boston Children’s...
by Vanessa McMains, Johns Hopkins University (Top) The nuclear pore protein Pom121 in healthy brain cells. (Bottom) Brain cells with an ALS/dementia genetic mutation have less of the nuclear pore protein Pom121 than healthy brain cells, which leads to disrupted transport routes and ultimately cell death. Credit: Alyssa Coyne Researchers have long sought to explain...
INSTITUTE FOR RESEARCH IN BIOMEDICINE (IRB BARCELONA) ANALYSIS OF THE GENOMES OF 28,000 TUMORS FROM 66 TYPES OF CANCER. view more CREDIT: IRB BARCELONA Cancer is a group of diseases characterised by uncontrolled cell growth caused by mutations, and other alterations in the genome of cells. A tumour can present from hundreds to thousands of...
IDIBELL-BELLVITGE BIOMEDICAL RESEARCH INSTITUTE BELLVITGE BIOMEDICAL RESEARCH INSTITUTE (IDIBELL) view more CREDIT: BELLVITGE BIOMEDICAL RESEARCH INSTITUTE (IDIBELL) Inhibit the specific activity of a protein affected by a mutation using high doses of a drug is the usual treatment for many cancers. Despite in the first instance this strategy is effective, leads to treatment resistance development...
by RIKEN A new study by researchers at the RIKEN Center for Integrative Medical Science in Japan reports differences in blood cell mutations between Japanese and European populations. The study found that these pre-clinical mutations were strongly associated with different types of cancers and can explain why Europeans have higher rates of chronic lymphocytic leukemia,...
