by University of Florida A “fishing hook” molecule in red is added to a drug-like compound to catch enzymes that chop up RNA, yellow, for recycling by cells. The strategy has been used to break up oncogenes known for causing some of the most dangerous, untreatable cancers. Credit: Disney lab at The Wertheim UF Scripps Institute....
Category: <span>Genetics</span>
Supposedly rare diseases aren’t as rare as previously thought
UNIVERSITY OF BASEL Rare diseases are often caused by defects in genetic material. If children inherit only a defective gene from one parent, they often are asymptomatic “carriers” – or at least that was the previous assumption. However, a research team from the University of Basel and the University Hospital Basel is now reporting that...
Machine-learning program reveals genes responsible for sex-specific differences in Alzheimer’s disease progression
by Texas Children’s Hospital The top 98 EAML genes are connected to GWAS genes, dysregulated in AD patients, and capable of separating AD and healthy control samples. Credit: Nature Communications (2023). DOI: 10.1038/s41467-023-38374-z Alzheimer’s disease (AD) is a complex neurodegenerative illness with genetic and environmental origins. Females experience faster cognitive decline and cerebral atrophy than males, while males...
New neurodevelopmental disorder identified among patients with common symptoms
by UT Southwestern Medical Center Credit: Pixabay/CC0 Public Domain A new type of developmental disability caused by mutations in a gene known as CBX1 has been discovered by a UT Southwestern Medical Center researcher and his colleagues. The findings, reported in Genetics in Medicine, offer insight into the role this gene plays in development and could eventually...
Researchers reverse the in vitro and in vivo effects of the mutation that causes Stormorken syndrome
by University of Oslo Credit: Pixabay/CC0 Public Domain Sometimes scientists arrive at new findings and discoveries by chance. That was the case when Thilini Gamage was to carry out one of the studies in her doctoral work with Professor Eirik Frengen at the Institute of Clinical Medicine, University of Oslo. They study gene variation and mutations...
Epigenetic mechanism associated with clinical outcome and therapeutic vulnerability in liver cancer
by Josep Carreras Leukaemia Research Institute NSUN7 epigenetic loss occurs in human primary HCC tumors in association with worse clinical outcome. (A) Percentage of NSUN7 methylation in the TCGA data set of primary tumors according to cancer type. (B) NSUN7 methylation is inversely correlated with NSUN7 transcript expression in TCGA HCC tumors. (C) NSUN7 methylation is...
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...
Scientists identify mutated gene behind mirror movement disorder
by the University of Montreal Arhgef7 is required for Netrin-1–mediated commissural axon guidance. (A) The mean mRNA expression, fragments per kilobase of transcript per million mapped reads (fpkm), (± SEM) of Arhgef7 and Dcc in dissociated commissural neurons (n = 3). (B) Dissociated commissural neurons were fixed and immunostained for Arhgef7 and Dcc. Scale bar,...
Scientists release a new human ‘pangenome’ reference
by NIH/National Human Genome Research Institute Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available. Credit: Darryl Leja, National Human Genome Research Institute, NIH Researchers have released a new high-quality collection of reference human genome sequences that captures substantially...
Gene p16, which drives colorectal cancer, is emerging as a target for potential therapies
by Homa Shalchi, Baylor College of Medicine Engineered p16 epimutation recapitulates key features of age-associated epigenetic silencing. A p16 DNA methylation profiles in cis-MEF following serial passaging (p). A schematic of the p16 promoter of the cis-element knock-in allele with the CpG maps is shown. B Kinetics of p16 promoter methylation and mRNA expression in ctr-MEF and cis-MEF. Methylation levels were averaged from CpGs from − 814 bp to − 589 bp relative to the TSS....