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Kiran B. Kotade*, Dipal S.Shinde, Shivanand N. Hiremath, Sachin B. Somwasnhi,Ramdas T. Dolas, Vinayak M. Gaware


Huntington’s disease (HD) is a devastating neurodegenerative & genetic disorder that occurs in patients with a mutation in a sequence of human DNA that is known as the HD gene, huntingtin gene & also expansion of ht gene on chromosome 4which encodes for huntingtin gene. It is inherited as an autosomal dominant trait. This means that an individual only needs to receive one copy of the HD gene from an affected parent toexpress the disorder. Therefore, if one parent expresses the disorder, their offspring have a 50% chance of inheriting it. Patients are affected by early cognitive signs, motor deficits, and psychiatricdisturbances. It is of two typesi.e adult & juvenile Huntington. Acccording to severity HD can be divided in 3 stages. A significant increase in the activity of this enzyme in both the caudate nucleus and putamen is observed with this disease. The resistance of these neurons suggests that the gene defect in Huntington's disease may be modifiable by the local biochemical environment.Symptoms are attributed to cell death in the striatum and disruption of cortical–striate circuitry.Mechanisms of cell death are unclear, but processes involving mitochondrial abnormalities, excitotoxicity,and abnormal protein degradation have been implicated. Many factors likely contribute to neuron deathand dysfunction, and this has made it difficult to systematically address the pathology in HD. The Huntington's disease gene, was the first autosomal defect mapped using only DNA markers, Pharmaceutical therapies are commonly used in patients to treat disease symptoms. These have limited benefit. Several neuroprotective therapies are being evaluated in animalmodels of HD as well as in clinical trials. Similarly, cell replacement strategies such as fatal transplantation have been used in the clinic with minimal success, making future cell replacement strategies such as stemcell therapy uncertain.

Keywords: Huntington’s disease, Huntingtin gene, CAG, Neurodegenerative, Autosomal.

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