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Huntington’s Disease and Gene Therapy
Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder that results in the mutation of the huntingtin (Htt) protein (1) (Zuccato et al., 2010). HD results from the repetition of trinucleotide sequence CAG coding for glutamine which clinically presents with progressive chorea, dementia and psychiatric disturbances (2) (Leegwater-Kim and Cha, 2004) as well as planning and memory impairment (3)(Mrzljak and Munoz-Sanjuan, 2013). Pathologically, HD includes extensive degeneration of medium spiny neurons (4) (Benraiss and Goldman, 2011) and reactive gliosis (2), where astrocytes undergo changes in response to injury or disease (5)(Sofroniew, 2009), in the striatum as well as loss of pyramidal neurons in a number of cortical regions (3)(Mrzljak and Munoz-Sanjuan, 2013). The elongation polyglutamine residues near the N-terminus of Htt causes a mutant conformation of the protein (mHtt) that is transferred to the nucleus where it forms aggregates or inclusions (2)(Leegwater-Kim and Cha, 2004) that result in beta-sheet formation (6)(Kanazawa, 2006). Many researchers have targeted the CAG repeat as a therapy, or even cure, for the disease.
RNA Interference (RNAi):
Antisense mediated gene silencing is the post-transcriptional silencing of genes using antisense molecules that are complementary to the base pairs of the targeted mRNA strand (7)(Nielsen and Nielsen, 2013). The antisense molecules supress translation or lead to direct degradation of the targeted strand (7)(Nielsen and Nielsen, 2013). In doing this it decreases the amount of the protein that would have been formed and in the case of HD improves the symptoms (7)(Nielsen and Nielsen, 2013).
RNAi is a regulatory mec...
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...Conoughey et al., 2010)
The main therapies being explored in the search for a treatment for Huntington’s disease involve the use of RNA interference and antisense therapy. Rather than treating symptoms these therapies are aimed at upstream mechanisms that directly affect the mutant protein involved and, therefore, treat the illness as a whole. A number of challenges present with the use of this type of therapy, many of which have hindered the progression in research. These include endogenous RNA competition, immune response activation and off-target effects (21)(Harper, 2009). Other challenges faced are delivery modes for the RNA molecules and transport or distribution to and from the target site.
However, with the advancement of identifying SNPs and other molecules mHtt that specifically target mHtt, it is only a matter of time before trials reach human models
The symptoms of Huntington’s disease increase slowly and last until death. Chorea is one of
diet fed to either group of patients. All the Huntington's disease and 11 o f the control
Huntington’s disease (HD) is a progressive autosomal dominant neurodegenerative genetic disorder. HD was originally named Huntington’s chorea after Dr.George Huntington, an American physician who first gave a detailed note on the symptoms and course of the disease in 1872.Recently the name has been changed to Huntington’s disease to emphasize the fact that chorea is not the only important manifestation of the disease but several non-motor symptoms are also associated with this disease.[1]
Huntington's disease is a progressive brain disorder that is caused by a single defective gene on chromosome 4 — which is one of the 23 human chromosomes that carry a person’s entire genetic code (alz.org, 2013). This defect is dominant, w...
It is estimated that between .1 and 10 % of people who suffer from Huntington's
RNA Interference has been successfully applied in many fields of medicines used to treat issues such as, Parkinson’s and Lung Cancer. One study, sponsored by Alnylam Phar...
Huntington's disease is a genetic disease. The signs and symptoms generally develop in midlife. People with Huntington's disease at younger age usually is the more serious case, and their symptoms may progress more rapidly. Huntington is harder to find in children. There are medications that available to help finding out the signs and symptoms of Huntington's disease, but treatments cannot prevent the declining in people’s physical and mental in this situation.
Huntington’s disease is a progressive neurological disorder that is caused by an autosomal dominant mutation in the HTT gene. There will be no change in the allele frequencies because this treatment only has an effect on the phenotype, not the genotype; it does not
A devastating, yet rare, disease that strikes fear in families and even more so in the person that is diagnosed with this debilitating disease. Huntington’s disease can affects both mental and physical parts of the body, with only medication to slow the course of this disease, a certain level of coping and adjustment is necessary.
The genetic mutations generally cause an over or under expression of proteins leading to a diseased condition, Anti-sense oligonucleotides can be used to modify or regulate the expression of these mal-functioning proteins which can prevent disease onset or progression. According to Mark Diamond CEO of Antisense Therapeutics, “the main advantage of Anti-Sense therapy is the ability to move relatively inexpensively and efficiently into clinical development, with platform-based advantages over existing treatments and unlike conventional drug discovery, the process for producing an antisense lead inhibitor is rapid, once the biological target is identified, many antisense sequences can be generated to its genetic sequence and tested in vitro to confirm drug potency and then studied in animals to confirm activity and safety”. These compounds can be used in treating many rare genetic diseases like Muscular Dystrophy, Spinal Muscular Atrophy, Huntington’s disease, Parkinson’s disease etc. that require much targeted approach. The application of Anti-Sense therapy for Spinal Muscular Atrophy and Huntington’s disease will be
I looked up Huntington’s Disease to find out more about the disorder. There is no real treatment for the disorder, so I do not see any benefit of knowing that you are going to develop the disease. I feel the distress of knowing that a gene is present and the disease is going to come in time would be worse than the symptoms starting to manifest themselves. The early symptoms can develop any time, but in most cases, they develop in between the age range of 30 – 50 years of age. The initial signs and symptoms are very subtle causing problems with coordination, involuntary movement, and memory. The person affected may develop depression or irritable moods. In the early stages, there are some medications that can help with those symptoms.
HTT provides instructions to make a protein called Huntingtin. The protein Huntingtin plays a important role in the nerve cells of the brain. The multiple repeats in the Huntington’s gene are known as “CAG”. “CAG” is Cytosine, Adenine, and Guanine in DNA. The brain cells cumulate clumps of “CAG”, (from the repeated DNA sequence) of protein that become toxic, which results in cell death . Some people can lose more than 25% of their brain cells before they die (Genetic Science Learning
Huntington’s is a disease that is caused by a genetic defect on chromosome 4. This defect causes the CAG repeat to occur more than it’s supposed to. This section of DNA is repeated 10 to 28 times in a normal person but a person with Huntington’s it’s repeated anywhere from 36 to 120 times, depending on how severely their affected. This is an inherited disease that causes a progressive degeneration of the nerve cells in the brain which affects many aspects of a person such as their behavior, movements, cognitive thinking, and causes several other problems.
Huntington’s disease (HD) is an inherited disorder that causes degeneration of neurons in regions of the brain that control motor functions and cognition (Ghosh, 2015). The disease was formally described for the first time in 1872 by George Huntington. In his essay, “On Chorea”, Huntington incorporated the medical records of the patients treated previously by his father and grandfather. He noted the hereditary transmission of chorea, its gradual onset and tendency of affected patients to insanity and suicide. Since the original discovery the name has changed from Huntington’s chorea to Huntington’s disease to acknowledge the multiple non-motor symptoms faced by patients (Rüb, 2015). The clinical features that Huntington observed remain true
In 1998, the concept of RNA interference (RNAi) was first discovered and added to the complexity of post-transcriptional regulation of gene expression in cells (Fire, 1998). The RNAi phenomenon was originally discovered in Caenorhabditis elegans where the injection of double-stranded RNA resulted in the decreased expression of genes with highly homologous sequences to the injected nucleic acid sequence. In the first step of the mechanism of RNAi, double stranded RNA is converted cleaved into short, 21 to 24 nucleotide long small interfering RNAs (siRNAs) (Elbashir, 2001). RNA cleavage is catalyzed by the enzyme Dicer, an endonuclease of the RNase III family (Layzer, 2004). The resultant siRNAs contain 3'-hydroxyl termini and a 5'-phosphate at both ends. In the second step of RNAi, these siRNAs are incorporated into the RNA-induced silencing complex (RISC). Within the complex, a helicase unwinds the duplex siRNA and the resulting single-stranded siRNAs can pair with messenger RNAs (mRNAs) that contain a high degree of sequence complementarity to the siRNA. Following this in humans, the Argonaute 2 (Ago2) protein that is associated with the RISC complex degrades the targeted mRNA. The target mRNA is cleaved in the complementary region at the phosphodiester bond that lies across nucleotides 10 and 11 of the 5'-end of the siRNA (Elbashir, 2001). For RNAi-mediated cleavage and degradation of mRNA to be successful, a 5'-phosphate must be present on the antisense strand and the antisense-mRNA helical duplex must be in the A-form (Chiu, 2003.)