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Krabbe disease is also known by many other names, these include Globoid cell leukodystrophy, Galactosylcerebrosidase deficiency and Galactosylceramidase deficiency. (1, 4) It is a very rare condition that is caused by a genetic defect that affects the nervous system. (2) Types of Krabbe disease There are two main types of Krabbe disease: early-onset (infantile) Krabbe disease late-onset (juvenile- or adult-onset) […]
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Vincent Pasque and his team at KU Leuven have unravelled parts of a mechanism that may one day help to treat Rett syndrome and other genetic disorders linked to the X chromosome. Women and most female mammals have two X chromosomes, but only one of these is active in any given cell. This active X chromosome is selected through a […]
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A study published today in the journal Cell Reports sheds new light on how the CD2AP gene may enhance Alzheimer’s disease susceptibility. Integrating experiments in fruit flies, mice and human brains, a multi-institutional team led by researchers at Baylor College of Medicine found that the CD2AP gene is involved in synaptic transmission, the process by which neurons communicate. Digging deeper, […]
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Scientists at the University of Eastern Finland and the University of Oxford have shown that small RNA molecules occurring naturally in cells, i.e. microRNAs, are also abundant in cell nuclei. Previously, microRNAs were mainly thought to be found in cytoplasm. The scientists also discovered that microRNA concentrations in cell nuclei change as a result of hypoxia. The findings strongly suggest […]
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People with the same lifespan do not necessarily have the same quality of life. As we live longer, extending quality of life — “healthspan” — is gaining importance. Scientists at the Okinawa Institute of Science and Technology Graduate University (OIST) have discovered a gene linked with healthy ageing in the roundworm C. elegans, shedding light on the genetics of healthspan. […]
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The immune system is programmed to rid the body of biological bad guys — like viruses and dangerous bacteria — but its precision isn’t guaranteed. In the tens of millions of Americans suffering from autoimmune diseases, the system mistakes normal cells for malicious invaders, prompting the body to engage in self-destructive behavior. This diverse class of conditions, which includes Type […]
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Like finding a needle in a haystack, identifying genes that are involved in particular diseases can be an arduous and time consuming process. Looking to improve this process, a team led by researchers at Baylor College of Medicine has developed a new bioinformatics tool that analyzes CRISPR pooled screen data and identifies candidates for potentially relevant genes with greater sensitivity […]
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Scientists at the Gladstone Institutes have made a key observation about one of the most fundamental biological processes: gene transcription. A gene’s job is to provide a cell with the instructions to create a specific protein. The first step of this process is called transcription, during which the DNA is copied into RNA. The scribe is an enzyme called RNA […]
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A new study led by Massachusetts General Hospital (MGH) investigators finds that radiation therapy may increase the uptake of therapeutic nanoparticles by glioblastomas, raising the possibility of using both growth-factor-targeted and immune-system-based therapies against the deadly brain tumor. The team describes how pretreatment with low-dose radiation increased delivery to tumors of nanoparticles carrying small interfering RNA (siRNA) molecules and significantly […]
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