Huntingtin

While learning the effects the mutated Huntingtin gene has on areas of the brain, such as the basal ganglia and cerebral cortex, it makes it easier to understand the progression of symptoms and why certain treatments are used. For example, the neurons affected throughout the basal ganglia tend…

component of the Lewy body lesions; characteristic of PD as well as certain cases of AD and several other neurodegenerative conditions [53]. In the HD, mutation of huntingtin, a cytoplasmic protein, leads to it aggregation and form inclusions in cell nucleus in the brain. These aggregations, alongside the interaction of mutated huntingtin protein with regulatory caspases, are believed to be component of the pathophysiology of HD [54]. In the case of ALS, it is the SOD that aggregates. There is…

It is caused by an “expanded, unstable trinucleotide repeat in the huntingtin gene (chromosome 4) which translates as a polyglutamine repeat in the protein product of greater than 36 CAG repeats in the HTT gene. It can add a property to the mRNA or alter a function of the proteins made.” The gene has an upstream open reading frame in the 5’ UTR that inhibits expression of the huntingtin gene product through transitional repression. HD mutation involves an “unstable DNA segment…

incurable (JPND Research, 2014). One example of a dominantly inherited severe autosomal neurodegenerative disease is Huntington’s disease. It is an inherited neurodegenerative disorder, resulting from an expanded poly-glutamine repeat region in the Huntingtin (htt) gene, and many regions of the brain are affected by this (Dominguez; 2010). Huntington’s disease is caused by an abnormal polytglutamine (polyQ) expansion within a single gene- Huntintin (Htt) in this case-…

2014). Sadly, HD’s symptoms generally emerge around the age of 40, while more severe cases emerge as early as in the late teenage years (Maiuri, 2013). In 1993, scientists discovered the HD gene on chromosome 4, which encodes for a protein, named “huntingtin”.…

disease (HD) is an inherited disorder that causes degeneration of brain cells, called neurons, in motor control regions of the brain, as well as other areas (NINDS, 2016). 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 (NINDS, 2016). Huntington’s disease is a progressive brain disorder that causes uncontrolled movements, emotional…

by Charles Gorman in 1846. Symptoms of the disease were described by Johan Christian in 1860. In 1872 George Huntington gave the first complete description of the disease based on his research and so the disease was named after him. In 1993 the huntingtin gene was located. Today in the USA there are approximately 30,000 people with Huntington's disease or approximately one in every 30,000 people in the USA have Huntington's disease. Worldwide it's estimated that for every 100,000 people 5-10…

. There is a high possibility that the words in the first sentence were not understood by many people living in the United States. However, those who did understand it, serve a purpose in many people's lives, especially if they go on to be interpreters. In America's healthcare system, it is required to have interpreters present with patients that are not fluent in English so when a doctor is consulting them, they have a clear understanding of the information. Genetic counselors are the same as…

“Unsafe water, sanitation, and hygiene are responsible for almost 4% of the global total in disability adjusted life years (DALYS) and almost 6% of the total attributable DALYs in high-mortality countries (WHO 2002).” In this scientific paper, I will discuss the neurological effects of lead contamination in public water through a series of case studies in the hopes of urging the Senate Environment and Public Works Committee to place stricter regulation on the EPA in monitoring lead pollution of…

rare in people near the age of 70 or older. The HTT gene provides the order for creating huntingtin protein. The protein according to Genetic home reference United States National Library of Medicine it “appears to play an important role in nerve cells (neurons) in the brain,” and is found in body tissues. Also according to the University of Utah Health Sciences, “The job of its protein product, huntingtin, is to direct the delivery of small packages (vesicles containing important molecules) to…