Causes Of Huntington Disease

According to aggregation kinetics, the rate of aggregation formation is dependent upon the amount of polyglutamine polypeptides. Aggregates in Huntington’s disease are formed from the mutant huntingtin fragments when the protein is cleaved at the N-terminal. This occurs after a conformation change into a β-sheet conformation. Huntingtin is cleaved by caspase, known for apoptosis, and calpain. Cleavage at caspase-3 sites and inhibited cleavage caspase-6 sites did not produce Huntington’s disease characteristics. Mutant huntingtin proteins contain more active calpains because of the increase in neurotransmitter – glutamate – release, enhancing NMDA-receptor activity. An increased glutamate level on spiny neurons was found to increase apoptosis in nerve cells. There are currently no treatment or cures for Huntington’s disease. However, new therapy ideas are centered on the inhibition of proteolytic cleavage.

At present, there is no cure for the disease, but dynamic progress has been made as researchers explore this illness. HD is inherited as an autosomal dominant condition. In March 1993, scientists realized that HD is caused by a mutation in a gene located on chromosome 4. This gene has a unique genetic sequence for CAG (cytosine-adenine-guanine) and codes for the amino acid glutamine, a building block for the huntingtin pr otein. Normal individuals have this sequence duplicated from 11 to 40 times in their genetic coding without having symptoms of HD. However, individuals with the disease have from 40 up to 100 repeated CAG segments. Juvenile Huntington's Disease occurs wit h 60 or more repeats, linking the longer chains of CAG sequences to earlier and more aggressive onset of the disease.

Huntington’s disease begins affecting the organs, it destroys the function of the multiple roles of the nervous system and the brain cells. The disease causes advanced deterioration and loss of brain cells, and contributes to a devastating loss of motor functions followed by advanced cognitive and intellectual impairment.

An increase in the size of the CAG segment leads to the production of an abnormally long version of the huntington protein. The elongated protein is cut into smaller, toxic fragments that bind together and accumulate in neurons, disrupting the normal functions of these cells. The dysfunction and eventual death of neurons in certain areas of the brain underlie the signs and symptoms of Huntington

I am interesting to learn more about the nerves system as a result for this assignment I have done my researcher about Huntington diseases. Huntington is a genetic disease that effect the brain and nervous system that result to insanity such as; uncontrolled movement emotional problem, and the ability of thinking (1998-. Huntington disease). The common type of Huntington disease shows up in the age of 30-40 years old person. The common and initial symptom may be involving irritability, the involuntary movement, depression, unable to coordinate, difficulty of making decision, and a poor condition of learn new issues. Patients that are diagnosed with Huntington disease are estimates that mostly survives about 15 to 20 years after staring up

4. “Huntington Disease - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/huntington-disease.

DNA plays a role in in heritance by our genetic make-up. Genetics make us who we are. This means our eye color, hair color, and even our intelligence. 80% of genetics comes from our mother and father. That means that if your mother or father were different, you would be a completely different person (National Library of Medicine (U.S.), 2017, p.5-13).

It is estimated that approximately one in every four American adults suffer from a mental disorder today. Within this subset of Americans, about six percent experience serious disabilities from their mental disorder. One of the more devastating mental disorders today is known as Huntington’s disease (Huntington’s chorea). Huntington’s largely affects people of European ancestry the most, an estimated three to seven out of every 100,000 of this decent suffer from it. Named after George Huntington who first characterized the effects of adult onset Huntington’s at the age of 22. In 1872, in the newspaper The Medical and Surgical Reporter, he described a disease that exhibited; loss of motor control, altered personality and a decline in cognitive

Huntington’s disease is caused by a mutation in the gene for a protein called Huntingtin. The genetic mutation results in the building blocks of DNA (cytosine, adenine, and guanine) to be replicated many more times than in an average individual. As a result, Huntington’s disease breaks down brain cells, or neurons, specifically located in the primary motor cortex regions of the brain, but can effect other brain areas

Human beings have two copies of genes that provide genetic information to produce Huntington, which is a protein. The two copies are usually labeled HTT (Hayes & Reichsman, 2009). A portion of this gene is as a result of a repetitive section referred to as a trinucleotide repeat that changes in terms of length from one person to the other, as well as between different generations. In case the repeat section of the gene is present in a gene that is considered healthy, then an active mutation might lead to an increment in the repeat sections, which might in turn lead to a gene that is defective (Marks & Neill, 2007). Subsequently, the length of the repeat portion might reach a given level where it leads to the production of altered and defective proteins

Huntington’s Disease (HD) is a genetic disorder in which the necrosis of cells in the brain causes early death [9]. The neurodegeneration of the brain leads to mechanical and psychological symptoms, which can present normally from 30 to 50 years of age or even earlier, which is referred to as Juvenile Huntington’s Disease [3,5,6]. Some mechanical symptoms of HD are change in gait, uncontrolled or sudden movement, abnormal face movement, turning the whole head instead of using the eyes, difficulty swallowing, impairment of speech and general decrease of motor skills [1]. Psychological symptoms include but are not limited to paranoia, irritability, mood swings, changes in behavior such as agitation or instability and

HD is a rare, progressive neurodegenerative disease which usually manifests itself between 30 and 45 years of age . It's characterised by a loss of motor control, jerky movements, psychiatric symptoms, dementia, altered personality and a decline in cognitive function. As the disease is adult onset, many people have already had children before they are diagnosed and have passed the mutant gene onto the next generation. In 1983, a genetic marker linked to HD was found on Chromosome 4, making it the first genetic disease to be mapped using DNA polymorphisms. However, the gene was not finally isolated until 1993

Huntington’s Disease is caused by a defective gene inherited from the parents, carried on chromosome 4. It is responsible for making ‘huntingtin’. Basically, it means that certain proteins needed to make brain chemicals are unable to make them in your brain as normal. This leads to damage and the death of some brain cells, called neurons, in the basal ganglia and the cortex, located in the brain. This leads to Huntington disease, and a buildup of dopamine, a chemical that is produced to make you feel good, contributes to the problem.

In 1972, George Huntington described an illness “Huntington’s Chorea” from the Greek work “Chorea” meaning dancing which is commonly refers to as Huntington Disease (HD) today. The movement made by the Huntington disease patients seems like a jerky dancing therefore it was refers as Huntington’s chorea (HC) 1 in every 10,000 people in United State of America (U.S.A.) suffers from hunting affecting male and female of all ethnicity and race equally but risk are higher for person’s in thirties or forties.. That approximately 30,000 people in the U.S.A., while more than 150,000 are at 50% risk of developing HD. HD is an inherited neurological, degenerative brain disorder which results in physical, mental, and emotional changes that affect

The Huntington disease is a condition inherited in an autosomal, dominant pattern, meaning one copy of the altered gene in each cell, sufficient to cause this disorder. The affected person inherits the altered gene from the affected parent. HTT gene is passed from generation to generation and when the CAG trinucleotide repeats over time, it increases in size. People with adult-onset with the form of the Huntington disease have around 40-50 CAG repeats in a HTT gene. People with a juvenile form of disorder have more than 60 CAG repeats, whilst an individual person have around 27-35 CAG repeats in a HTT gene which cannot develop the Huntington disease but have the risk of having children who will develop this disorder.