Huntington 's Disease ( Hd )

Huntington’s Disease is a brain disorder affecting movement, cognition, and emotions (Schoenstadt). It is a genetic disorder generally affecting people in their middle 30s and 40s (Sheth). Worldwide, Huntington’s disease (affects between 3-7 per 100,000 people of European ancestry (Schoenstadt). In the United States alone, 1 in every 30,000 people has Huntington’s disease (Genetic Learning Center). Huntington’s Disease is a multi-faceted disease, with a complex inheritance pattern and a wide range of symptoms. There is also much research being done in the field of Huntington’s disease, because as of 2012, this disease is untreatable. THESIS.

Huntington's disease is an inherited neurodegenerative disorder. It is passed on to children from one or both parents (though two parents with Huntington's is extraordinarily rare) in an autosomal dominant manner. This is different from autosomal recessive disorder, which requires two altered genes (one from each parent) to inherit the disorder.

The genetic disorder is caused by a mutation in the DNA segment CAG found in chromosome 4 which results nerve cell death. Phenotypic characteristics include gradual motor dysfunction, psychological issues that correlate to degeneration of metal health, and cognitive degeneration. Studies on transgenic mice have allowed a better understanding of the proteins that relate to Huntington’s

The CAG combination codes for a protein called huntingtin. Why the increase number of CAG causes HD is still unknown. It is thought that too much of the HD protein makes them obtain some new, abnormal property. This is true in two

Current research revolves around the transgenic mouse model developed in Berlin at the Max Planck Institute. The model was made by p utting the first part of the HD gene, containing the long stutters of CAG repeats, into a mouse, and it was discovered that two months later the mice began to exhibit the

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.

Huntington's Disease (HD) is a disability that will continue to get worse and worse over time. The lifespan for someone living with HD is 10 to 25 years after they are diagnosed and showing symptoms, which is usually around the ages of 30 to 50 ("What Is Huntington's Disease," 2017). These symptoms begin at different times and depend on the individual. Overtime, the person affected will begin to lose their ability to walk, talk, and eat over the course of these 10 to 25 years resulting in the need for 24 hour care.

The disease that I have chosen is Huntington’s disease. Australian Huntingtin’s Disease Association (NSW) says that five in one hundred thousand people have Huntington’s disease. Huntington’s disease is rare in people who descended from Europe, but according to the U.S national library of medicine it is less common in people of “Japanese, Chinese and African decent” to name a few (2017). The symptoms may include: subtle changes in personality and physical skill. The most recognisable symptom is random sporadic movements throughout the body. This is called chorea; this can reduce coordination and cause other minor motor abnormities. This would lead to difficulty chewing, swallowing, speaking, cause unusual facial expressions

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

Huntington's disease is an autosomal dominant disorder, which is found on the # 4 chromosome. George Huntington discovered it in 1872. It mainly has an effect on the nervous system. There are around 210,000 bases between D4S180 and D4S127. The disease itself is found in 2% of people in their childhood, and in 5% of the people they were older then 60. (Miller p 16) In the majority of the affected people the disease is detected between the ages of 35-45. In males the disease begins around the time of their childhood. However, in females it begins later in life. This severe symptom has a tendency for the condition to worsen as it is passed on from generation to generation. Huntington’s disease is paternally

Huntington’s disease is a hereditary brain disorder that is progressive in neurodegeneration; which means, there is a loss of function and structures of one’s neurons. In the long run it results in the loss of both mental and physical control. The disease affects muscle coordination, cognition and behavior. It used to be known as Huntington’s chorea because it is the most common genetic disease that is the cause of abnormal twitching. Huntington 's has an intense effect on patients, as individuals gradually lose the ability to reason, speak and swallow. Also, motor symptoms, which affects in problems with walking, (Mayo Clinic Staff, 2011).

Huntington’s Disease is a dominant, autosomal, neurodegenerative disease that results from excess CAG repeats on the human chromosome 4. These CAG repeats code for a protein named Huntingtin, and patients of Huntington's Disease have a mutated form of it. Symptoms begin to appear in one’s middle ages and continue to progress over a span of about 20 years. It leads to loss of mental ability and muscle coordination, as well as increasing one’s vulnerability to depression. Those who develop Huntington’s Disease cannot be cured, but there is treatment to reduce the mental and physical effects. Genetic advancements in both testing and treating Huntington’s Disease have provided hope for families with a history of this disease, but it has

Huntington’s Disease (HD) is a genetically inherited, progressive, autosomal dominant, fatal neurodegenerative disease that’s characterized by behavioral difficulties, decline of cognitive abilities, abnormal involuntary movements (chorea), and muscle spasms (dystonia) (1). These characteristics help diagnose patients with HD, but a genetic test can be done to prove that one has the disorder. The gene responsible is that which produces the huntingtin protein in chromosome 4; the defect causes extra repeats of the chemical code (2).

Huntington’s disease (HD) is monogenic neurodegenerative disorder characterized by motor, cognitive and psychiatric abnormalities. It consists of two types: adult onset and juvenile onset. The most common form is adult onset in which a person’s symptoms usually occur between 35-44 years old with a mean survival time of 15-20 years after onset, while the less common form known as the juvenile form begins in adolescence with a mean survival time of 10-15 years after onset.1

Huntington’s disease (HD) is a fatal genetic neurodegenerative genetic disorder affecting the brain. It results in uncontrolled jerking movements (chorea), cognitive and behavioural changes. HD leads to incapacitation of the patient and ends fatal. However, death rarely results from HD itself. It is typically due to complications of HD. HD was originally called Huntington’s chorea, because of the involuntary movements that looked like jerky dancing. Chorea is the Greek word for dancing. The majority of HD patients start developing the disease around 30 to 40 or even later. If HD onsets before the age of 20, the condition is called juvenile Huntington’s disease. This form of HD has often expresses the symptoms different and progresses faster