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Huntingtons disease summary
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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
-Reilly Philip. Is It In Your Genes. Cold Spring Harbor Laboratory Press. 2004: 223-228. Print
Abada, Y. K., Schreiber, R., & Ellenbroek, B. (2013). Motor, emotional and cognitive deficits in adult BACHD mice: A model for Huntington’s disease. Behavioural Brain Research, 238, 243-251. doi:http://dx.doi.org/10.1016/j.bbr.2012.10.039
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...
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 an inherited neurodegenerative disorder. It is passed on to children from one or both parents (though two parents with Huntington's is extraordinarily rare) in an autosomal dominant manner. This is different from autosomal recessive disorder, which requires two altered genes (one from each parent) to inherit the disorder.
Miller, Marsha L. “HD Research – Past and Future.” Huntington’s Disease Society of America. 2011. Web. 23 March 2012.
Gene therapy is a technique used in attempts to cure or prevent genetic diseases at the molecular level (basically at the source) by correcting what is wrong with defective genes, a good version of the defective gene is introduced into the existing cells. This technique is still considered experimental, only being done through clinical trials. This idea was first suggested during the 1950’s. The basic idea was “if the basses can be arranged incorrectly then why can’t they be rearranged in the correct way?”
Huntington’s disease – Is a fatally rare condition that causes the gradual deterioration of the nerve cells in the victim’s brain, typically affecting persons fro...
It is estimated that between .1 and 10 % of people who suffer from Huntington's
The book talks about how upcoming trends in gene and cell therapy is meant for those who look for the valuable thread that runs through the arena of gene therapy, cell therapy, and tissue engineering, yet found other sources too specialized to undertake it. This book focuses on arming basic clinicians and scientists with this valuable thread so that they are better situated to tackle the weakening diseases currently plaguing mankind. The authors argue that gene and cell therapies are promising policies for managing acquired and genetic illnesses. Currently, various ethical issues and biological barriers have restricted their clinical interpretation.
Huntington’s disease is caused by an abnormal dominant gene. Also called Huntington’s chorea, it is a complex disorder that affects a person capability to feel, think and move. The symptoms of Huntington’s disease consist of mood swings, irritability, depression, and anger. These symptoms are likely to worsen and the disease a lot of times runs in the family. If people have at least one parent with Huntington’s disease, the chances of them inheriting it are 50-50 chance. There is also a 50-50 chance that, that same person could pass the faulty gene on to their future child. This pattern of inheritance is called "autosomal dominant". The disease could also affect a person’s judgment and other mental functions. In some cases the person could
It's 6 a.m. and your alarm clock goes off. For most people you get up and get ready. When you have Huntington's disease it makes simple things much more difficult. A life with Huntington's disease would be a challenge.