Huntingtin

including memory, concentration, judgment and ability to plan and organize. HD affects men just as much as it affects women. HD is a genetic disease that affects a gene on the 4th chromosome. The defective gene codes the blueprint for a protein called huntingtin. This protein 's normal function isn 't yet known, but it 's called "huntingting" because scientists identified its defective form as the cause of Huntington 's disease. Everyone has two copies of the HD gene. Part of the gene is a repeated section

Genetic traits which are derived from the rules of inheritance proposed by Gregor Mendel are referred to as Mendelian. After a series of experiments in his garden with pea plants he came to discover the basic principles of heredity which have now formed the foundation to genetics; he noted certain traits appeared within offspring in predictable patterns. These principles include the law of segregation which states offspring receives an allele coding for the same trait from both parents and the law

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

Case Study Question #1: What are your initial observation of the patient? Include name, age, marital status, profession, behavior, etc. The patient, a single 33-year-old female has a job requiring the use of her hands for typing. Upon entering the room, the patient had poor posture and an unsteady gait. After she took a seat, rapid and jerky involuntary movements began to occur and there were also problems speaking and swallowing when she tried to take a sip of water. The patient also mentioned that

condition. In March 1993, scientists realized that HD is caused by a mutation in a gene located on chromosome 4. This gene has a unique genetic sequence for CAG (cytosine-adenine-guanine) and codes for the amino acid glutamine, a building block for the huntingtin pr otein. Normal individuals have this sequence duplicated from 11 to 40 times in their genetic coding without having symptoms of HD. However, individuals with the disease have from 40 up to 100 repeated CAG segments. Juvenile Huntington's Disease

Treatments/medicine: It is important to know that Huntington’s disease is not curable. There are treatments and medications that are being used to help decrease the symptoms of this disease and slow down the advancement of it. Physical therapy and counseling is being used frequently as a treatment for Huntington’s. Physically, the victim with Huntington’s disease or slowly progressing into having Huntington’s disease, need some form of physical therapy to help with having unstable and involuntary

Jacqueline Joy FCSC 101 November 18, 2015 DNA and Huntington’s Disease Genes are gifts, or sometimes curses, given by our parents that not only affects the way we look, but also how we think and act. A genetic disease can be defined as an abnormality in an individual's genome and can vary in intensity from a discrete mutation of a single base in the DNA of a gene to a whole addition or subtraction in a set of chromosomes. Huntington’s Disease is an example of a genetic disorder in which nerve

Alzheimer’s disease (AD) is a neurodegenerative disorder characterized by β-amyloid plaque formation caused by aggregation of β-amyloid42 within the brain leading to a progressive decline in cognitive function and memory loss (2). Hyperphosphorylated tau protein is occasionally found in brains of AD patients with advanced pathology however, it is not necessarily an indicator of AD but considered a sign of disease severity (2, 4, Kosik et al, 1986). AD is separated into two subcategories following

Introduction The concept of an Antisense oligonucleotide (an ASO) was first introduced by Stephenson and Zamecnik, who used an antisense nucleotide to stop viral replication in cell culture[1]. The effectiveness of ASOs as treatments has already been seen in other disease, such as Vitravene (or Fomivirsen), which was the first ASO made publicly available, and is used to treat cytomegalovirus retinitis, as well as Isis 3521 which when given to lung cancer patients in addition to combination chemotherapy

Introduction: Huntington 's chorea, commonly referred to as Huntington’s disease is an utterly devastating diagnosis for not only the patient affected directly with the disease but also for their biological children. Huntington’s disease is an inherited genetic disorder which causes the death of brain cells resulting in physical and mental abnormalities that worsen over time until certain death. As if that were not bad enough, the off spring of Huntington’s disease affected patients have a 50% chance