Huntington's Disease: A Genetic Disease

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

It is a disease that progressively breaks down the nerves in the brain. The genetic mutation that underlies the disease is in chromosome 4. The gene codes for the huntingtin protein, which makes up about 6% of the DNA in cells (Genetic Home Reference). This mutation deals with the trinucleotide repeat of the cytosine-adenine-guanine (CAG) sequence. This sequence repeat can repeat up to 40 times to be considered normal, but after this sequence repeats more than 41 times then it is considered Huntington's disease. Huntington’s protein can form inclusions seen in both the cytoplasm and the nucleus (Suchowersky). These inclusions are correlated with neuronal cell death, which occurs within the nerves. Interestingly, Huntington protein seems to be very important for early development (Suchowersky), but in high concentrations appears to become toxic especially to nerve cells. Overall, Huntington’s disease has a very intense effect on the body and behavior

neurologist named Geoge Huntington during the late 19th century. HD is a brain disorder that greatly affects a person's ability to think, speak, and move functionally (MedicineNet). The causes behind this disease were uncovered in the basal ganglia, a nuclei group linked to the thalamus, the center of the brain responsible for sensory and motor relay. The basal ganglia obtains the same control of physical movement, but is also responsible for human emotion and cognitive ability. In HD, there is a mutation on chromosome 4, which, without dysfunction, holds over 1,000 genes and creates over 186 million copies of different DNA building materials, or base pairs (Mandal, Ananya). DNA is shaped like a spiral ladder and creates different base pairs out of adenine, guanine, cytosine, and thymine. The combination of these bases determine a cell's function. Chromosome 4 creates CAG; however, all base pairs come with a maximum limit of copies that it can create. In HD, CAG is endlessly repeated, which then encodes the protein, huntingtin (Mandal, Ananya). There are results in damage of the basal ganglia, and, eventually, overall neurological

According to Genetic Science Learning Center, it has been stated that approximately 1 in every 30,000 Americans have been affected with Huntington Disease and is considered one of the most common brain disorders due to heredity (Genetic Science Learning Center). This disease was discovered by a 22-year-old American doctor, named George Huntington, in 1872. Huntington wrote a paper called On Chorea which was published in the Medical and Surgical Reporter, and the disorder later become known as Huntington Chorea, but is now commonly known as Huntington Disease (What Is The History of Huntington’s Disease?). Huntington disease-like Syndrome (HDL) is a condition that resembles a lot like Huntington disease (HD) (Huntington disease-like Syndrome).

Gene is the basic unit of heredity in a living organism. It is also composed of the DNA (deoxyribonucleic acid). Huntington's disease is caused by abnormal genes in the nerve cells in the brain. In the global population Huntington's disease evaluates that for every 100,000 people 5-10 people are going to have Huntington's disease. In the United States, 30,000 are affected by Huntington's disease and 150,000 people have 50 percent risk of evolving this disease. Moreover, in middle east countries Huntington's disease is estimated to affect 3-4 people per 100,000. Explaining the history, meaning and how the genes of Huntington's disease inherited helps to realize the disease and its risk.

Huntington’s disease is an inherited brain disorder that has a broad effect on a person’s physical and mental abilities. Unlike other passed down diseases, signs and symptoms of Huntington’s disease can start at any age but usually show between the age of thirty and forty. The onset of this disorder may even begin at the age of 20 or even before that and is known as the juvenile Huntington’s disease. Individuals with this disease can only live about 15 to 20 years after signs and symptoms appear and earlier onset form of this disorder may result in a faster progression.

What is huntington's Disease? How can I get it? Should I be tested? Is there a cure? These are all really good questions a lot of people would ask about Huntington's Disease. Huntingtons Disease is a brain disorder in which you get from genetics. This means you can only get this disease if somone in your family has had it. Usually you start seeing the symptoms from the ages of 30-50. Huntington's Disease is deadly. I am 30 years old and my father had this disease. Should I get tested for it?

The first step in identifying the Huntingtin gene was to use pedigrees of affected families to establish that Huntington’s disease as an autosomal dominant inheritance pattern [79]. Over 100 scientists were involved in the following 10 year Huntington’s

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

The huntingtins gene allele expands greater than 36 CAG units. But the normal individuals have less than 36 CAG units. Huntingtin is the names for the defective protein that the mutation generates. The protein has uncertain molecular function that makes it found throughout the body (Barboza and Ghisi 2018). This explains the disorder that causes Huntington disease and describe what the normal protein unit would look in a person who doesn’t have Huntington disease versus a person whom is a potential carrier of the disease. Studies by Barboza and Ghisi reveal Huntingtin causes changes in both the neostriatum and cerebral cortex. The disease development is a result in a loss of the Huntington’s gene (Barboza and Ghisi (2018). The mutant causes changes in the neostriatum and cerebral cortex which explains how the mutant affects the body and how the disease is developed. An earlier report by Barboza and Ghisi reveal If the parent has Huntington’s disease it gives the parent a 50% chance of passing it to their children. Which means it’s a dominant disease. The mutation increases every generation and completely ignores mendelian inheritances because of the repeated trinucleotides. (Barboza and Ghisi 2018). This describe what mutation can lead do and how mutations

Huntington disease is an autosomal disease this means that the defective gene does not occur on one of the sex chromosomes but instead it occurs on one of the other 22 chromosomes (known as autosomes). It is a also a dominant disorder so therefore only one copy of the altered gene, passed on from a parent who has it, is necessary to cause their offspring to inherit the disease. If one of the parents has the defective gene their offspring will have a 50/50 chance of inheriting that gene. (See Figure 1).

Sadly the Huntington gene is dominant, so each child of a Huntington carrier has a 50% chance of inheriting it. A person with Huntington’s can develop symptoms anywhere in between2 and 80, however symptoms generally appear mid-life. In the case that the child doesn’t copy the defective gene, they will neither get the disease nor be a carrier of it.

I have picked Huntington’s disease to write my paper on. This disease is known to affect the nerve cells in the brain. It slowly breaks them down, affecting a person’s thinking, movement, and can cause psychological disorders. There are several symptoms that come along with this disease, but they usually don’t show up until a person is in their 30s or 40s. The first signs that usually appear affect the physical, cognitive, and behavior of the victim. Though the behavior and cognitive symptoms aren’t as noticeable until later on, the physical symptoms are very obvious.

Huntington’s disease, or HD, is a genetic neuro-generative condition that is characterized by progressive dysfunction in motor, cognitive and behavioral abilities. There are about 4-10 cases per 100,000 throughout the world, which makes it one of the most prevalent genetic neuro-generative disorders. Huntington’s disease is a dominant gene mutation that occurs in the huntingtin gene. The result is an excessive repeat of the nucleotide triad cytosine-adenine-guanine (CAG) and causes damage to neurons. The striatum of the brain and the cerebral cortex are most affected by the gene but other parts of the brain atrophy as well. Typically, onset begins around the 4th decade of life although an early onset form can occur before the age of 20.

The branch of human genetics studying the influence of genes on development and function of the