Gene mutation is defined as a permanent alternation in the DNA sequence which makes up a gene that makes the DNA sequence differs from that of most people. Gene mutation could be further divided into two types which are hereditary mutations and acquired mutations. The difference between hereditary mutations and acquired mutations is that hereditary mutations are inherited from a parent while the acquired mutation is caused by the daily life of a person. Moreover, the hereditary mutation occurs in every cell in the body but acquired mutations only occur in some cells in the body. In this essay, Huntington’s disease, one of the gene mutation-related disease would be discussed.
Huntington’s disease is a brain disease that results from hereditary mutations in the HTT gene. It is a rather rare gene mutation-related disease which only affects about three to seven per ten thousand people. Although the frequency of having Huntington’s disease is very low, it is a disease that causes devastating damages to the brain cells or neurons which includes the loss of thinking ability, the occurrence of uncontrolled movements and emotional problems. However, unlike the other gene mutation-related disease, Huntington’s disease is progressive. This means this disease has different stages and the symptoms become more severe from the early stage to the late stage. In the early stage, symptoms are rather slight. Physically, slight uncontrollable movements, weaker coordination, and stumbling can be observed. Emotionally, depression, slightly lack of emotions can also be observed. Involuntary jerking and twitching movement could be easily observed from the patients of Huntington’s disease. As time passes, the severity of these symptoms is pronounced. Patients begin to experience trouble in walking, speaking and even swallowing. Moreover, they begin to experience the loss of emotion control like antisocial behavior, depression, frustration could be easily observed. Besides, the occurrence of cognitive changes could appear. At last, individuals with Huntington’s disease are suffered from total failure in walking and talking which require full nursing care (Brazier,2017). However, individuals with Huntington’s disease usually could live like a normal person for about 15-20 years. After that, the symptoms began to appear and become more and more severe afterward.
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The occurrence of all the symptoms above is due to the mutations in the HTT gene. HTT gene plays an important role in the functioning of the nerve cell. HTT is responsible for the coding of Huntingtin protein which interacts with a protein that locates in the brain only. Therefore, the altered huntingtin could directly disrupt the nerve cells and causes the dysfunction of the neurons. For the individual with Huntington’s disease, the HTT mutation leads to a much higher level of CAG trinucleotide repeat. Normally, the CAG segment only repeats for about 10 to 35 times within the gene. However, for patients with Huntington’s disease, the CAG segment could repeat up to 120 times. The excess amount of CAG segment is then divided into smaller, toxic fragments that accumulate and remain in neurons (Brazier,2017). This causes the failure of the functioning of neurons. As neurons are responsible for the processing and transmitting signals to different parts of the body, the dysfunction of neurons makes the brain loses the control of different parts of the body. The failure of transmitting signals from the brain to the four limbs causes uncontrolled movements. The reason for the occurrence of emotional problems and the loss of memory is due to the failure of transmitting signals within different parts of the brain. Hippocampus is the part of the brain that plays an important role in processing long-term memory and Amygdala is a part of the brain that related to emotions like anger, fear or pleasure. The dysfunction of neurons weakens the functions of the Hippocampus and Amygdala which contributes to the emotional problems.
As Huntington’s disease is caused by hereditary mutation, it can be diagnosed by referring to family history. However, as the symptoms of Huntington’s disease in the early stage are not specific, sometimes the diagnosis requires the assistance of a CT scan or even MRIs. Despite long-time research of Huntington’s disease, no treatments or medications that could fully cure or even slow down Huntington’s disease. Nowadays, medication like the drug tetrabenazine, the antipsychotic drug is adopted to minimize the symptoms of Huntington’s disease. However, recent scientific research shows that CRISPR technology could be used to treat Huntington’s disease. The CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) gene-editing system is proved to be effective in treating Huntington’s disease by removing the troublesome DNA without affecting other DNA molecules (Saloman,2018). Apart from the CRISPR technology, antisense oligonucleotides (ASOs), a new method to treat Huntington’s disease is also a rather new method discovered within these few years. ASos are DNA molecules that can bind to RNA molecules that cause Huntington’s disease and degrade them (Saloman,2018). Patients with Huntington’s disease could obtain ASOs through a lumbar puncture. This method has been proved successful to treat early-stage Huntington’s disease. It is expected that more and more innovative methods to be discovered in the future to treat Huntington’s disease.
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