Autor: Clinical genetics
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DNA marker in malaria mosquitoes may be pivotal in tackling insecticide resistance
A new study has detected a DNA marker in a gene encoding a key enzyme known as cytochrome P450 that helps mosquitoes to break down and survive exposure to pyrethroids, the main insecticides used for treating bed nets. This new finding, published on the…
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Potent DNA-recombination method developed for large cargo delivery in gene therapy
Delivery of therapeutic genes is essential for gene therapy. Adeno-associated viruses (AAVs) are a prime vector for carrying gene cargoes because of their superior gene segmentation flexibility and robust gene reconstitution efficiency. However, their …
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Runx1 transcription factor modulates opioid analgesia and withdrawal in humans and rodents
A University of Calgary-led international research team has identified a genetic factor that may explain why people respond so differently to opioid pain medications, and why some individuals face greater risk of side effects including dependency. The …
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How a tiny cellular signal helps shape the human heart
Australian researchers have uncovered a crucial new mechanism that helps explain how the heart’s major blood vessels form during early development, and how disruptions to this process can lead to serious congenital heart defects. The study, led by scie…
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MDGA2 gene malfunction removes brain’s excitatory ‘brake’ to trigger severe epilepsy, study finds
The DGIST Center for Synapse Diversity and Specificity has identified MDGA2 as a novel causative gene for developmental and epileptic encephalopathy (DEE), a rare and intractable neurological disorder occurring in infancy and early childhood. This stud…
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Premature aging may result from immune responses triggered by faulty DNA repair
DNA is often described as the instruction manual for building the fundamental components of life. Proteins are helpers that aid DNA in carrying out essential processes such as replication, repair, and transcription. Under normal conditions, proteins do…
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‘Celtic curse’ genetic disease hotspots revealed in UK and Ireland
People from the Outer Hebrides and north-west Ireland have the highest risk of developing a genetic disease that causes a dangerous build-up of iron in the body, a study published in the journal Nature Communications suggests.
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Examining DNA molecules one by one: How combining techniques can help us understand diseases such as dementia
«By cleverly combining new techniques for analyzing DNA at the level of individual molecules, we can achieve real breakthroughs in research into conditions such as dementia,» predicts Professor John van Noort. Together with four leading biophysics rese…
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It takes two: Genes ATP13A2 and GBA1 interact to drive neurodegeneration
Parkinson’s disease (PD) is the second most common neurodegenerative disease after Alzheimer’s disease, affecting more than 10 million people worldwide. People with this condition may experience tremors, limb stiffness, gait and balance problems and mo…
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Decoding the molecular signatures of night blindness
Congenital stationary night blindness (CSNB) is caused by mutations in a specific calcium channel. A comprehensive proteomic study by researchers at the University of Innsbruck now reveals how these mutations trigger complex, mutation-specific molecula…