Genetics, Pathology, & Potential Future Advances in the Study of Huntington's Disease

By Matthew D. Rose
2016, Vol. 8 No. 12 | pg. 3/3 |

7. Discussion

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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George Huntington first described Huntington’s disease (HD) in 1872 as being a hereditary chorea, “an heirloom fortunately being confined to just a few families but known to exist as a horror” (Neylan, 2003). This disorder of the basal ganglia is prevalent in approximately 5-7 per 100, 000 people, with an average age of onset of symptoms being at 35-45 years of age. The duration between onset and severe disability or death spans... MORE»
The discovery of adult neurogenesis (the endogenous production of new neurons) in the mammalian brain more than 40 years ago (Malcolm R. Alison, 2002) has resulted in a wealth of knowledge of this branch of neuroscience. Today we know that the continuous production of new neurons is facilitated by adult neural stem or progenitor cells (NSC/NPCs) (Cattaneo & McKay, 1990; Gage, 2000; Temple... MORE»
Parkinson’s disease (PD), a progressive neurodegerative disorder most prevalent in the elderly and for which there is currently no cure, selectively targets nigrostriatal Dopaminergic (DAergic) projection neurons in the substantia nigra pars compacta (SNpc), which generates a consequential loss of Dopamine (DA) in the striatum (ST) (1). Because of the involvement of DA in voluntary movement, the resulting alteration in basal ganglia circuitry... MORE»
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Latest in Neuroscience

2016, Vol. 8 No. 07
In this paper, I review the course of brain development during childhood and adolescence and examine how early adverse experiences affect structural changes in the neural correlates of higher-order cognitive abilities. I also discuss the therapeutic... Read Article »
2015, Vol. 11 No. 1
Published by Discussions
Neurofeedback Therapy (NFT) is a type of biofeedback therapy specifically targeting the brain and nervous system. According to the Mayo Clinic, biofeedback is defined as a technique one can use to learn to control the body’s functions, done... Read Article »
2014, Vol. 6 No. 09
Autism is a complex neuro-developmental disorder causing deficits in social interaction and language development at an early age. The severity is based on the level of impaired social communication and restricted, repetitive behaviors. The average... Read Article »
2007, Vol. 2 No. 1
Published by Discussions
The peripheral nervous system is made up of the nerves and neurons that are outside of the central nervous system. These nerves and neurons are used to transport information between the brain and the rest of the body, and when damaged, can severely... Read Article »
2013, Vol. 5 No. 09
Antisocial personality disorder (ASPD), also known as dyssocial personality disorder, is a mental illness that is characterized by a reckless disregard for social norms, impulsive behaviour, an inability to experience guilt, and a low tolerance... Read Article »
2011, Vol. 3 No. 03
When investigating the effect of gaze direction on facial expressions of emotion, previous imaging research indicated that dynamic presentation of stimuli produced higher amygdala responses (Sato, Kochiyama, Uono, & Yoshikawa, 2010). A behavioral... Read Article »

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