Huntingtin

depression, psychosis, and obsessive-compulsive behavior. Cognitive and memory disturbances occur later. Pathophysiologically, HD occurs due to excessive cysteine-adenosine-guanine (CAG) trinucleotide repeats on chromosome 4. It leads to an abnormal Huntingtin protein, which accumulates within specific neurons resulting in neuronal death. Caudate nucleus and putamen are commonly affected. HD also exhibits anticipation i.e. the disease occurs early and is more severe for future generations. The…

Huntington disease (HD) or HD chorea is progressive neurodegenerative autosomal dominant disease that is defined by the motor, behavioral, and cognitive symptoms that influence “about one in ten thousand people in the western hemispheres” (Novak et al. 234). HD chorea is often identified by the movement difficulties that it causes, and “In fact, when HD was first discovered it was called Huntington’s chorea, as a reference to the uncontrollable, dance-like movement that is common among people…

The first description of a Huntington-like disease dates back to the late 1800’s where George Huntington coined the name Huntington’s chorea. It is characterized as a neurodegenerative disorder passed within families within generations as an onset of unwanted choreatic movements, behavioral and psychiatric disturbances and dementia [1]. The name Huntington’s chorea eventually changed to the well-known Huntington’s Disease (HD) due to the recognition of other debilitative symptoms developed along…

the nerves in the brain break down, it causes your body to glitch. This is why a person with this disease experiences muscle twitches and can’t control all of their movements. Huntington’s is caused by a mutation in the gene for a protein called Huntingtin. This is why the neurons break down. Huntington’s disease is passed on by family members. Someone can…

Preimplantation genetic testing is a genetic technique in which cells are removed from embryos to examine chromosomal abnormalities in vitro fertilization before a woman gives birth (King). Embryos made through in vitro fertilization would face genetic modification to avoid passing the defects onto future generations. After modification, only embryos free of abnormalities would be placed into the mother’s womb. This technique is targeted for parents who have a high risk of passing a fatal…

Computed tomography (CT) scanning technology was discovered in 1972 and revolutionized the world of neuroimaging (Sadock, Sadock, & Ruiz, 2014). The CT scan was the first technique to allow the imaging of brain tissue in living patients (Sadock, Sadock, & Ruiz, 2014). During a CT scan, a patient lies on a flat surface, which incrementally moves through what is referred to as a gantry (Sadock, Sadock, & Ruiz, 2014). A gantry is a round shaped structure that contains a motorized x-ray source…

Unit 7 Written Assignment Question 1: Based on this video, describe the symptoms of the SCA1 disease. The symptoms I understood includes; 1. Balance and coordination problems 2. Swallowing- choking on their food, which leads to death 3. Difficulty with breathing, breathing disordered 4. Secondary infection 5. Having speech difficulties SCA1 is a familial disease as indicated by the pedigree analysis chart shown on the video and in the image below Question 2: Explain how to read the chart by…

In the United States, approximately 30,000 Americans have Huntington’s disease (HD). Huntington’s disease, also known as Huntington’s chorea, is an autosomal dominant disorder that causes selected neural cell death. With this disease comes concerns regarding what the disease is, its history, and its symptoms. In addition to those components, its stages, diagnoses, and treatments are of great importance as well. Huntington’s disease is a fatal genetic disorder that causes the progressive…

GENE SILIENCING Gene silencing is something that most people do not know about. It is part of molecular biology which is things to with the natural body and life but to a minute size. Gene silencing was developed and still developing by the RNAi team at CSIRO in Australia which was led by a British-Australian virologist and geneticist named Peter Waterhouse. This team of a few also had significant contributions from Ming-Bo Wang who helped Peter Waterhouse develop this technique. This technique…

unaffected individuals may have 6-29 CAG triplet repeats, yet in HD patients the disease allele may contain 36 to hundreds of CAG triplets as the TNR repeat number grows with each generation. Over time the mutation in individuals with HD produces huntingtin that causes death of brain cells controlling movement.…