Huntington's disease (HD) results from genetically programmed degeneration of brain cells, called neurons, in certain areas of the brain. This degeneration causes uncontrolled movements, loss of intellectual faculties, and emotional disturbance. HD is a familial disease, passed from parent to child through a mutation in the normal gene. Each child of an HD parent has a 50-50 chance of inheriting the HD gene. If a child does not inherit the HD gene, he or she will not develop the disease and cannot pass it to subsequent generations. A person who inherits the HD gene will sooner or later develop the disease. Whether one child inherits the gene has no bearing on whether others will or will not inherit the gene. Some early symptoms of HD are mood swings, depression, irritability or trouble driving, learning new things, remembering a fact, or making a decision. As the disease progresses, concentration on intellectual tasks becomes increasingly difficult and the patient may have difficulty feeding himself or herself and swallowing. The rate of disease progression and the age of onset vary from person to person. A genetic test, coupled with a complete medical history and neurological and laboratory tests, helps physicians diagnose HD. Presymptomic testing is available for individuals who are at risk for carrying the HD gene. In 1 to 3 percent of individuals with HD, no family history of HD can be found.
First neurodegenerative disease model launched from bit.bio's new ioDisease Model portfolio.
Huntington's disease is caused by a mutation in the Huntingtin gene, a protein necessary for the proper functioning of several brain cells.
While neurons and glial cells are by far the most numerous cells in the brain, many other types of cells play important roles. Among those are cerebrovascular cells, which form the blood vessels that deliver oxygen and other nutrients to the brain.
Aging leads to a decline in cellular fitness and loss of optimal protein function. Many age-related ailments, including Alzheimer's and Parkinson's diseases, are caused by protein aggregation, a result of errors in protein folding.
Proteins are the "tools" of our cells – they are essential to all vital tasks. However, they are only able to do their jobs if they fold correctly and adopt their respective, very specific 3D structure.
Researchers from Johns Hopkins Medicine say they have added to evidence that a protein called CaMKII improves strength, endurance, muscle health and fitness in young animals.
Mass spectrometry has emerged as an important analytical tool for gaining a better understanding of mechanisms underlying Huntington's disease (HD), alongside the increased availability of cell and animal models of the disease.
Prilenia Therapeutics B.V., a clinical stage biotech company focused on developing novel treatments for neurodegenerative and neurodevelopmental disorders, today announces the publication of three peer-reviewed journal articles, highlighting key aspects of the mechanism of action of its lead asset, pridopidine, and the importance of S1R activation as a mechanism to attenuate biological features of neurodegenerative diseases.
Huntington's disease is caused by a mutation in the Huntingtin gene (HTT), which appears in adults and features motor, cognitive and psychiatric alterations.
In Huntington's disease, a faulty protein aggregates in brain cells and eventually kills them. Such protein aggregates could, in principle, be prevented with a heat shock protein.
Spinal cord injury (SCI) often causes disability and seriously compromises quality of life. While decades of research have made significant progress in axonal regeneration after SCI, most of the interventions have not been translated into clinical therapies.
A world first clinical study of the gut microbiome in people with Huntington's disease (HD) has found that it is not just a disease of the brain, but also of the body.
Huntington disease is a progressive debilitating brain disorder that causes uncontrolled movements, psychological problems, and loss of cognition.
Artificial intelligence can increase the effectiveness of drug repositioning or repurposing research, according to a study published in Translational Psychiatry.
In a series of experiments using human cancer cell lines, scientists at Johns Hopkins Medicine say they have successfully used light as a trigger to make precise cuts in genomic material rapidly, using a molecular scalpel known as CRISPR, and observe how specialized cell proteins repair the exact spot where the gene was cut.
Researchers have identified two brain phenomena that may explain some of the side-effects of ketamine. Their measurements of the brain waves of sheep sedated by the drug may explain the out-of-body experience and state of complete oblivion it can cause.
Scientists have described a potential new therapeutic strategy for slowing down early-stage Huntington's disease in a new study published today in eLife.
A group of scientists from CECAD, the Cluster of Excellence 'Cellular Stress Responses in Aging-Associated Diseases,' have found a mechanism by which neurodevelopmental diseases concerning neurons can be explained: The loss of a certain enzyme, UBE2K, impeded the differentiation of stem cells by silencing the expression of genes important for neuronal differentiation and, therefore, the development and generation of neurons.
More than a decade before people with Huntington's disease show symptoms, they can exhibit abnormally high levels of an immune-system molecule called interleukin-6 (IL-6), which has led many researchers to suspect IL-6 of promoting the eventual neurological devastation associated with the genetic condition.