Huntington’s Disease What is Huntington’s?
A family passed down disease which is an autosomal dominant trait characterized by the onset of Chorea and Dementia after the ages of 40-50? Signs of initial onset of the disease include paranoia, poor impulse control, depression, hallucinations, and delusions. Over time, there will be an intellectual impairment, loss of fine motor control, athetosis, and diffuse chorea involving axial and limb musculature develops. Normally, an individual will end up in a vegetative state once symptoms begin to take effect after 10-15 years. Within juveniles with the disease, there are also symptoms of seizures, ataxia, dementia, and chorea. It is a neurodegenerative issue that has symptoms which lead to progressive …show more content…
It is caused by an “expanded, unstable trinucleotide repeat in the huntingtin gene (chromosome 4) which translates as a polyglutamine repeat in the protein product of greater than 36 CAG repeats in the HTT gene. It can add a property to the mRNA or alter a function of the proteins made.” The gene has an upstream open reading frame in the 5’ UTR that inhibits expression of the huntingtin gene product through transitional repression. HD mutation involves an “unstable DNA segment similar to those previously observed in several disorders…” such as the fragile X syndrome and myotonic …show more content…
What are treatment options for Huntington’s disease?
Some potential treatment for the disease include neural/stem cell transplantation directly in the brain. Researchers such as Friedlander have brought up the idea that due to the role of apoptosis and caspases in neurodegenerative diseases, it is a potential target for therapeutic targets. However, other implications are that in order to properly treat Huntingtons there is a requirement to treat the process of gross neuronal cell death. Prevention of the cell deaths are not effective, and rather helping ameliorate the processes that lead to it.
Are you at risk of obtaining the disease?
There are signs that people most at risk of having/passing Huntington’s is are those who could have CAG nucleotide repeats that are unusually high. This is noted in some research to not be present in the general population of China, Japan, and Nigeria which is supported by the lower rates of HD. Individuals of European descent have been shown to have an enrichment of a set of “22 tagging single nucleotide polymorphisms…” that contribute to appearance of the disease. General risk factors that matter also include sex and age of the transmitting patient, and environmental
A family passed down disease which is an autosomal dominant trait characterized by the onset of Chorea and Dementia after the ages of 40-50? Signs of initial onset of the disease include paranoia, poor impulse control, depression, hallucinations, and delusions. Over time, there will be an intellectual impairment, loss of fine motor control, athetosis, and diffuse chorea involving axial and limb musculature develops. Normally, an individual will end up in a vegetative state once symptoms begin to take effect after 10-15 years. Within juveniles with the disease, there are also symptoms of seizures, ataxia, dementia, and chorea. It is a neurodegenerative issue that has symptoms which lead to progressive …show more content…
It is caused by an “expanded, unstable trinucleotide repeat in the huntingtin gene (chromosome 4) which translates as a polyglutamine repeat in the protein product of greater than 36 CAG repeats in the HTT gene. It can add a property to the mRNA or alter a function of the proteins made.” The gene has an upstream open reading frame in the 5’ UTR that inhibits expression of the huntingtin gene product through transitional repression. HD mutation involves an “unstable DNA segment similar to those previously observed in several disorders…” such as the fragile X syndrome and myotonic …show more content…
What are treatment options for Huntington’s disease?
Some potential treatment for the disease include neural/stem cell transplantation directly in the brain. Researchers such as Friedlander have brought up the idea that due to the role of apoptosis and caspases in neurodegenerative diseases, it is a potential target for therapeutic targets. However, other implications are that in order to properly treat Huntingtons there is a requirement to treat the process of gross neuronal cell death. Prevention of the cell deaths are not effective, and rather helping ameliorate the processes that lead to it.
Are you at risk of obtaining the disease?
There are signs that people most at risk of having/passing Huntington’s is are those who could have CAG nucleotide repeats that are unusually high. This is noted in some research to not be present in the general population of China, Japan, and Nigeria which is supported by the lower rates of HD. Individuals of European descent have been shown to have an enrichment of a set of “22 tagging single nucleotide polymorphisms…” that contribute to appearance of the disease. General risk factors that matter also include sex and age of the transmitting patient, and environmental