Genetics, Pathology, & Potential Future Advances in the Study of Huntington's Disease
Since the discovery of the HD gene in 1993, much progress into the way the disease manifests has been made. The roles of the wild-type protein have been researched extensively and it is clear that the protein is key in many aspects of human life. The exact pathogenic mechanisms of the disease are still not completely clear, but it is apparent that the toxic mutant protein induces massive neuronal cell death leading to the observed symptoms. One key question that needs answering regards inclusion bodies- are they pathogenic, or a cellular defence mechanism. If this puzzle can be solved, it will provide clear focus for future research..
The lack of an effective animal model that contains the entire Htt gene with an expanded polyQ repeat and shows a slow disease progression is affecting the chances of current treatment research being transferred to human patients. If a non-human primate model with the above phenotype can be developed, this will greatly enhance the chances of treatments entering widespread use.The sheer volume of research into treatment provides a positive outlook for the future. While many therapies are experimental, in the next decade, drugs could become licensed to improve the quality of life of patients and in some cases, even prevent the appearance of symptoms. Personalised medicine, such as the mentioned RNAi therapy for specific SNPs in a person’s Htt gene, will become important in many conditions in the future, and is clearly an area where further research could result in many saved lives. Huntington’s disease is no longer an unknown condition attributed to being possessed by demons but is instead becoming manageable and, hopefully one day, treatable.
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