Huntington’s disease
Huntington’s disease, found within Cellular and Molecular Biology, is a fatal genetic disorder that causes progressive breakdown of nerve cells in the brain. It is a rare autosomal dominant progressive neurodegenerative disease. In this essay, Huntington’s disease will be discussed in reference to the biology behind the faulty HTT gene, the signs and symptoms associated with the disease, along with coping mechanisms and outcomes for those suffering from the disorder.
To begin, we will discuss the mutant HTT gene that causes Huntington’s disease. This was first discovered by George Huntington, a 22-year-old American doctor who began with writing a paper called On Chorea in 1872 where Huntington’s chorea (more commonly termed Huntington’s disease) was first recognized as an inherited disorder. During that time, people with chorea were often thought to be possessed by the devil with their involuntary muscle jerks and twitches. Throughout this time period of the eighteenth and nineteenth centuries, chronic adult hereditary chorea was poorly understood since ones who held the gene died before symptoms would develop. Now that people are living longer, the gene has more time to express itself and thus be studied by scientists. Interestingly, HTT was the first disease-associated gene to be molecularly mapped to a human chromosome. (Gusella at al., 1983). It turns out that the HTT gene contains a region where the triplet nucleotide CAG is repeated several times. Moreover, the number of CAG repeats present in the HTT gene determines whether an individual will have the disease. Individuals with six to 35 CAG repeats will be unaffected; individuals with 36-39 repeats will be at increased risk for HD; and individuals with 40 or more CAG repeats will definitely manifest disease phenotypes (MacDonald et al., 1993; Bates, 2005). According to the research team at UF Center for Movement Disorders and Neurorestoration, HD is caused by a mutation in the HTT gene characterized by a triplet DNA (deoxyribonucleic acid) nucleotide expansion, CAG, which encodes the amino acid glutamine. The result is a “polyglutamine” expansion in the Huntingtin protein that leads to abnormal protein deposition, dysfunction, and neuronal loss in the brain. Despite the fact the gene mutation and associated protein are known, we still do not know how mutant Huntingtin causes disease. …show more content…
(UFhealth.org. HDSA 1). Today, scientists use molecular genetic approaches in order to determine precisely the number of CAG repeats present in the HTT gene. This will then accurately determine whether an individual will suffer from Huntington’s disease later in life. Since this discovery in 1993, research has been moving quickly to develop treatments and ultimately a cure. To aid in this, there are now options for genetic testing and prenatal testing to find the HTT gene and ultimately proactive ways to cope with the eventual onset of this fatal disease. With increased focus and expanding knowledge of the molecular basis of this disease, we can be confident that the collaborative efforts that led to the identification of the HTT gene and its mutations will continue.
Now let us discuss signs and symptoms associated with Huntington’s disease. While this disorder is typically adult-onset, there have been cases of the juvenile form that proves to be even more severe. The symptoms that appear first in adult-onset HD will vary in each affected person. In addition, during the course of the disease some disorders may become more dominant and have a greater affect than others. Those that suffer from HD will experience general deterioration of their physical and mental abilities. The symptoms have often been described as having ALS, Parkinson’s and Alzheimer’s simultaneously. While they typically appear between the ages of 30-50, they have been shown to worsen over …show more content…
The caregivers are more often than not family members that take on this huge responsibility alongside a variety of doctors, social workers, rehabilitation therapists and psychologists. By discussing the biology behind the faulty HTT gene, the signs and symptoms associated with it, along with coping mechanisms and outcomes for those suffering from this disorder, we have shown that the more we understand, the more we can help. Even if you don’t know someone personally affected by this genetic disorder, there are still many ways to increase awareness in your area and even participate financially towards finding a
Huntington’s disease, found within Cellular and Molecular Biology, is a fatal genetic disorder that causes progressive breakdown of nerve cells in the brain. It is a rare autosomal dominant progressive neurodegenerative disease. In this essay, Huntington’s disease will be discussed in reference to the biology behind the faulty HTT gene, the signs and symptoms associated with the disease, along with coping mechanisms and outcomes for those suffering from the disorder.
To begin, we will discuss the mutant HTT gene that causes Huntington’s disease. This was first discovered by George Huntington, a 22-year-old American doctor who began with writing a paper called On Chorea in 1872 where Huntington’s chorea (more commonly termed Huntington’s disease) was first recognized as an inherited disorder. During that time, people with chorea were often thought to be possessed by the devil with their involuntary muscle jerks and twitches. Throughout this time period of the eighteenth and nineteenth centuries, chronic adult hereditary chorea was poorly understood since ones who held the gene died before symptoms would develop. Now that people are living longer, the gene has more time to express itself and thus be studied by scientists. Interestingly, HTT was the first disease-associated gene to be molecularly mapped to a human chromosome. (Gusella at al., 1983). It turns out that the HTT gene contains a region where the triplet nucleotide CAG is repeated several times. Moreover, the number of CAG repeats present in the HTT gene determines whether an individual will have the disease. Individuals with six to 35 CAG repeats will be unaffected; individuals with 36-39 repeats will be at increased risk for HD; and individuals with 40 or more CAG repeats will definitely manifest disease phenotypes (MacDonald et al., 1993; Bates, 2005). According to the research team at UF Center for Movement Disorders and Neurorestoration, HD is caused by a mutation in the HTT gene characterized by a triplet DNA (deoxyribonucleic acid) nucleotide expansion, CAG, which encodes the amino acid glutamine. The result is a “polyglutamine” expansion in the Huntingtin protein that leads to abnormal protein deposition, dysfunction, and neuronal loss in the brain. Despite the fact the gene mutation and associated protein are known, we still do not know how mutant Huntingtin causes disease. …show more content…
(UFhealth.org. HDSA 1). Today, scientists use molecular genetic approaches in order to determine precisely the number of CAG repeats present in the HTT gene. This will then accurately determine whether an individual will suffer from Huntington’s disease later in life. Since this discovery in 1993, research has been moving quickly to develop treatments and ultimately a cure. To aid in this, there are now options for genetic testing and prenatal testing to find the HTT gene and ultimately proactive ways to cope with the eventual onset of this fatal disease. With increased focus and expanding knowledge of the molecular basis of this disease, we can be confident that the collaborative efforts that led to the identification of the HTT gene and its mutations will continue.
Now let us discuss signs and symptoms associated with Huntington’s disease. While this disorder is typically adult-onset, there have been cases of the juvenile form that proves to be even more severe. The symptoms that appear first in adult-onset HD will vary in each affected person. In addition, during the course of the disease some disorders may become more dominant and have a greater affect than others. Those that suffer from HD will experience general deterioration of their physical and mental abilities. The symptoms have often been described as having ALS, Parkinson’s and Alzheimer’s simultaneously. While they typically appear between the ages of 30-50, they have been shown to worsen over …show more content…
The caregivers are more often than not family members that take on this huge responsibility alongside a variety of doctors, social workers, rehabilitation therapists and psychologists. By discussing the biology behind the faulty HTT gene, the signs and symptoms associated with it, along with coping mechanisms and outcomes for those suffering from this disorder, we have shown that the more we understand, the more we can help. Even if you don’t know someone personally affected by this genetic disorder, there are still many ways to increase awareness in your area and even participate financially towards finding a