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.
This study presents a fast method for generating human microglia from iPSCs, paving the way for breakthroughs in neurodegenerative disease research.
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Mitochondrial DNA (mtDNA) editing has emerged as a revolutionary approach in the fight against neurodegenerative diseases (NDDs).
Ten years ago, researchers from the University at Buffalo provided some insight into a long-standing neuroscience conundrum: How precisely does Huntington's disease result from a mutation in the huntingtin protein (HTT)?
Researchers from the University of Las Vegas Nevada (UNLV) and The Hospital for Sick Children (SickKids) have discovered a genetic connection between autism spectrum disorder (ASD) and myotonic dystrophy type 1 (DM1), a rare genetic disorder.
A new UCLA Health study has discovered in mouse models that genes associated with repairing mismatched DNA are critical in eliciting damages to neurons that are most vulnerable in Huntington's disease and triggering downstream pathologies and motor impairment, shedding light on disease mechanisms and potential new ways to develop therapies.
Scientists at the Broad Institute of MIT and Harvard, Harvard Medical School, and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells.
A new gene editing tool that helps cellular machinery skip parts of genes responsible for diseases has been applied to reduce the formation of amyloid-beta plaque precursors in a mouse model of Alzheimer's disease, researchers at the University of Illinois Urbana-Champaign report.
Research led by scientists at Queen Mary University of London is heralding in a new era for genetic sequencing and testing.
Researchers at McMaster University have found that the mutated protein in Huntington's disease patients disrupts DNA repair as it should, which affects the capacity of brain cells to regenerate.
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Researchers at Washington University School of Medicine in St. Louis have developed a way to capture the effects of aging in the development of Alzheimer's disease.
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Researchers at the University of Cologne's CECAD Cluster of Excellence for Aging Research and the CEPLAS Cluster of Excellence for Plant Sciences have found a promising synthetic plant biology approach for the development of a therapy to treat human neurodegenerative diseases, especially Huntington's disease.
Alternative splicing, a clever way a cell generates many different variations of messenger RNAs -; single-stranded RNAs involved in protein synthesis -; and proteins from the same stretch of DNA, plays an important role in molecular biology.
We often come to an understanding of what causes a disease. We know, for example, that cancers are caused by mutations at critical locations in the genome, resulting in loss of control of cell growth.
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