Journal article Open Access


Chincholkar Anjali Baburao*, Shende Vikas Suresh, Medhekar Sheetal Kashinath, Dr. Aloorkar Nagesh Hanmantrao, Dr. Kulkarni Ajit Shankarrao

Huntington’s disease (HD) is an autosomal inherited progressive neurodegenerative disease caused by a single mutation in the gene IT15 which codes for the protein huntingtin that result in an expanded polyglutamine stretch in the NH2 terminus of huntingtin protein (HTT). HD results from destruction of the GABAergic medium-sized spiny neurons (MSNs), which constitute 95% of all striatal neurons. MSNs are projection neurons that primarily innervate the substantia nigra and globus pallidus. Oxidative stress, apoptosis, mitochondrial and metabolic dysfunction, neuroinflammation, excitotoxicity, impaired ubiquitin proteosome activity, defective autophagy-lysosomal function, transcriptional dysregulation are considered to be major contributing factors in mediating pathogenesis of HD. BDNF, Glutamate and Nrf2 plays important role in Huntington’s disease. Oxidative stress can be decreased by increasing the concentration of BDNF and Nrf2. The prevalence of HD is much higher in European populations than in East Asia. HD affects approximately 5-10 individuals per 1, 00,000 individuals. There is no cure for Huntington’s disease, but various symptomatic treatments are available for it. Different drugs like SSRI, Lithium, and Memantine are available for symptomatic relief in Huntington’s disease. Terabenazine is only one FDA approved drug for Huntington’s disease. Now a day gene silencing therapies are available for Huntington’s disease. Various drugs like Autophagy enhancer, HDAC inhibitor, and Caspase inhibitor are also under the investigation which may become disease slowing treatment for Huntington’s disease. Stem cells also used in the treatment of Huntington’s disease. Various Animal models and transgenic models are available from which we can evaluate the potential of drugs used in Huntington’s disease. We summarize main papers for pathology, genetic basis for the Huntington’s disease and new approaches for the treatment of Huntington’s disease.

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