What exactly is Huntington’s disease? To start off it is a genetic illness that often occurs in people during their thirties and forties. This stage is called the adult-onset Huntington disease stage that is the most common form of the disorder. In comparison to adult-onset we see the less common form known as the juvenile form. This starts to become present in the stage of childhood or adolescence.
This condition is considered to be an autosomal dominant pattern. What this tells us that one copy of the gene that became altered has enough power to bring forward the disorder. Due to this being a genetic disorder, often the altered gene is passed along from a parent that was also affected. The gene that bring about this disorder can be identified as the HTT gene. Huntington’s disease comes about by the repetition of a nucleotide. The repeated trinucleotides are CAG, which are pictured below. They have done studies that show in adult-onset Huntington’s that this repeat is present 40-50 times, while in the juvenile-onset they see the repeat happen more than 60 times. However, digging deeper into the repeated genes, they were able to discover one vital piece of information. They have come across and can confidently say that adults that have 27-35 repeated genes typically do not develop the disease, but there is still risk in passing it down to their children and them developing the disorder. This comes from the fact that the replication of the trinucleotide can increase as it is passes from parent to child.
We now know that there is both adult-onset and juvenile Huntington’s disease. The symptoms that are corresponded with each have some similarities but also have their own symptoms that make them unique. Common symptoms that occur with adult-onset can be categorized into three different known as movement disorders, cognitive disorders, and psychiatric disorders. Some common movement disorders include involuntary jerking, slow eye movements, and difficulty with speech or swallowing. Moving onto cognitive disorders we see a difficulty in organizing, lack of impulse control, slowness in thoughts, and difficulty in learning new information. Lastly are psychiatric disorders which include feelings of irritability, social withdrawal, along with fatigue and energy loss. In close connection with Huntington’s disease come others disorders. The first being Obsessive-compulsive disorder (OCD) which is a condition that involves recurrent, intrusive thoughts. Another being Mania, which causes an elevated mood. Last is Bipolar disorder which is a condition where you go between episodes of mania and depression.
The problem with these symptoms is that they only get worse. As soon as symptom start to show that is the time throughout the disease that they feel and act the best. From there the symptoms start to gradually get worse and eventually are too much for the diseased to take care of themselves. In adults, once they start to show symptoms, they often only live another 15-20 years. However, in children, once they show symptoms, they are said to only live another 10-15 years. Due to the genetic make-up of this disease there are no cures or ways to treat the symptoms due to the increasing intensity of them. The only thing that can be done is genetic testing. By genetic testing you are able to see if you are at-risk for developing the disease. This information would be helpful when planning a family. The genetic testing would allow for the parents to see the risk that their child would develop the disease. From there the could decide whether they want to take the chance and have children. This is not the only prevention. With today’s science they would be able to remove eggs from the ovary and fertilize them with the father’s sperm. They then could analyze the embryos for the disease and if the disease is not present, implant the negatively tested embryo into the mother’s uterus.
Growing up I have watched my mother lose many of her half-siblings to this disease. Seeing what it does to not only that person but also the family is hard to see. All of them feel that all they can do is sit around and manage the symptoms the best that they can. There is no way other than being supportive to help those whom are affected move on through their remaining time. The most common question surrounding this disease is, “Do you carry the gene to become effected?” It is the right of that person to decide if they want to get tested to find the answer to that question. Some want to know of their lives are going to effected, while others don’t want the answer to justify how they live their life. Getting tested is a personal right and no one should experience backlash for getting tested or not. To find out more information on this disease please visit https://www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-causes/syc-20356117 and https://ghr.nlm.nih.gov/condition/huntington-disease#genes.
This condition is considered to be an autosomal dominant pattern. What this tells us that one copy of the gene that became altered has enough power to bring forward the disorder. Due to this being a genetic disorder, often the altered gene is passed along from a parent that was also affected. The gene that bring about this disorder can be identified as the HTT gene. Huntington’s disease comes about by the repetition of a nucleotide. The repeated trinucleotides are CAG, which are pictured below. They have done studies that show in adult-onset Huntington’s that this repeat is present 40-50 times, while in the juvenile-onset they see the repeat happen more than 60 times. However, digging deeper into the repeated genes, they were able to discover one vital piece of information. They have come across and can confidently say that adults that have 27-35 repeated genes typically do not develop the disease, but there is still risk in passing it down to their children and them developing the disorder. This comes from the fact that the replication of the trinucleotide can increase as it is passes from parent to child.
We now know that there is both adult-onset and juvenile Huntington’s disease. The symptoms that are corresponded with each have some similarities but also have their own symptoms that make them unique. Common symptoms that occur with adult-onset can be categorized into three different known as movement disorders, cognitive disorders, and psychiatric disorders. Some common movement disorders include involuntary jerking, slow eye movements, and difficulty with speech or swallowing. Moving onto cognitive disorders we see a difficulty in organizing, lack of impulse control, slowness in thoughts, and difficulty in learning new information. Lastly are psychiatric disorders which include feelings of irritability, social withdrawal, along with fatigue and energy loss. In close connection with Huntington’s disease come others disorders. The first being Obsessive-compulsive disorder (OCD) which is a condition that involves recurrent, intrusive thoughts. Another being Mania, which causes an elevated mood. Last is Bipolar disorder which is a condition where you go between episodes of mania and depression.
The problem with these symptoms is that they only get worse. As soon as symptom start to show that is the time throughout the disease that they feel and act the best. From there the symptoms start to gradually get worse and eventually are too much for the diseased to take care of themselves. In adults, once they start to show symptoms, they often only live another 15-20 years. However, in children, once they show symptoms, they are said to only live another 10-15 years. Due to the genetic make-up of this disease there are no cures or ways to treat the symptoms due to the increasing intensity of them. The only thing that can be done is genetic testing. By genetic testing you are able to see if you are at-risk for developing the disease. This information would be helpful when planning a family. The genetic testing would allow for the parents to see the risk that their child would develop the disease. From there the could decide whether they want to take the chance and have children. This is not the only prevention. With today’s science they would be able to remove eggs from the ovary and fertilize them with the father’s sperm. They then could analyze the embryos for the disease and if the disease is not present, implant the negatively tested embryo into the mother’s uterus.
Growing up I have watched my mother lose many of her half-siblings to this disease. Seeing what it does to not only that person but also the family is hard to see. All of them feel that all they can do is sit around and manage the symptoms the best that they can. There is no way other than being supportive to help those whom are affected move on through their remaining time. The most common question surrounding this disease is, “Do you carry the gene to become effected?” It is the right of that person to decide if they want to get tested to find the answer to that question. Some want to know of their lives are going to effected, while others don’t want the answer to justify how they live their life. Getting tested is a personal right and no one should experience backlash for getting tested or not. To find out more information on this disease please visit https://www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-causes/syc-20356117 and https://ghr.nlm.nih.gov/condition/huntington-disease#genes.
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