Huntingtin

Researches about Huntington’s disease (HD) revealed that it is caused by an expanded CAG trinucleotide repeat in HTT, the gene responsible for expressing the protein huntingtin. It was also revealed that the reduced expression of this protein leads to the neurodegenerative effects of the disease. However, the pathophysiology of the disease is still unknown. This paper investigated the pathophysiology of Huntington’s disease. This paper is based upon the toxic peptide theory of the disease pathogenesis

This illness affects about 30,000 Americans; in addition, another 150,00 are at high risk. A child with a parent with HD has 50 percent chance to inheriting the disease. Huntington’s disease is caused by a mutation in the gene for a protein called huntingtin. The defect causes the cytosine, adenine, and guanine (CAG) building blocks of DNA to repeat many more times than is normal leading to a overproduction of this protein resulting

of the protein huntingtin. It is not currently known what huntingtin is directly necessary for, but it seems to play a role in the proper function of nerves in the brain. Huntington’s Disease is caused by a mutation in the CAG trinucleotide repeat found inside the HTT gene. In people without the disease, the CAG repeats only about 25 times. People with Huntington’s Disease have anywhere from 35 to 120 CAG repeats within the HTT gene. An abnormal number of repeats forces the huntingtin protein to be

Huntington’s disease (HD) is an inherited disease that leads to the breakdown of nerve cells in the brain. HD affects a person both physically and mentally. Some symptoms include personality change, depression, forgetfulness, unsteady gait, involuntary jerking, slurred speech, and difficulty in swallowing. HD is considered a late on set disorder, because people don’t show symptoms until their 30’s or 40’s (Mayo Clinic Staff, 2014). HD progressively gets worse and worse and has 3 different stages

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). Symptoms, Morbidity and Mortality, incidence As stated above, those affected with the disorder display signs of neurodegeneration, including

Degenerative diseases are due to aggregation of proteins within specific neurons. These proteins are overproduced as a result of an overactive gene. This process interferes with normal cellular function leading to multiple degenerative diseases and is a field that requires researchers to find treatments. The alpha synuclein protein is abundant in the brain and can be found also in other parts of the body. In the brain, it is mainly found at the tips of neurons called the presynaptic terminals. Presynaptic

People with this genetic disorder get huntington’s disease from their parents. It affects people with the mutated huntingtin (HTT) gene. The huntingtin gene is in chromosome 4 and this is where the mutation occurs. In the huntingtin gene you normally have 10 to 35 CAG repeats. People with Huntington's disease have 36 to 120 CAG repeats in their huntingtin gene. As Huntington's disease gets passed on, the CAG repeats increase. This is how it gets passed on from parent to offspring. People

movements, emotional disturbances, and cognitive decline. The disease is caused by the mutation of a single gene located on chromosome four. The faulty gene, which codes for a protein called huntingtin, can have anywhere from thirty to fifty more repeats of the CAG codon than a healthy gene. The function of huntingtin is unknown, but an over-abundance of it is confirmed to be the cause of Huntington's disease. Genetic testing and diagnosis for Huntington's disease usually focuses on analyzing blood tests

Genetic diseases are diseases that are passed on from parents to their offspring. An example of a genetic disease which can be inherited is Huntington Disease. "Huntington Disease is an autosomal dominant neurodegenerative disorder with midlife onset characterised by psychiatric, cognitive and motor symptoms"(G. Vonsattel and DiFiglia, 1998). The statistics for HD blah blah blah Like all genetic diseases, huntington 's disease has a specific inheritance pattern. Huntington disease is an autosomal

You’ll have random jerks in movement on the face, arms, neck. You will have a loss of mental function as well. This disease is genetically passed down too. The major cause is the abnormal huntingtin (mHtt) with more than 36 glutamine residues. The mHTT gene gives instructions for creating a protein called huntingtin. The gene's role is in the nerve cells in the brain. The symptoms of Huntington’s disease occur in personality, behavior and mental function. Common symptoms are hallucinations, depression