Huntington’s Disease
Introduction
Genetic diseases are caused by any abnormality that might occur in an individual’s genome. Some genetic disorders are transmitted or inherited from parents to their offspring while others are caused by acquired mutation or changes in an already existing gene. Mutations can take place randomly or due to some environmental factors. There are different modes of genetic disorders that include single gene and multifactorial inheritance, chromosome abnormalities, and mitochondrial inheritance. A genetic disease is caused by an abnormality in an individual’s genetic structure. This idiosyncrancy can range from a mild mutation involving a single gene to a gross abnormality that encompasses an entire chromosome set. I will explore the inherited single gene, autosomal dominant disorder Huntington’s Disease.
Huntington’s Disease
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HD deteriorates an individual’s mental and physical abilities during their most productive years of life and it has no cure. In the later stages of the disease, full time care is required for the patient, with existing non-drug and pharmaceutical interventions being able to relieve a majority of its symptoms. It is interesting to note that the disorder has a higher probability of affecting individuals of Western European decent compared to those of African or Asian ancestry and it affects both men and women (Ross and Tabrizi
Inheritance by Dr. Sharon Moalem is an exceptional book. Dr. Moalem’s goal for writing this book is to convey a new idea of genetics and inheritance to the reader. In middle school and high school we were taught that our genetics comes from our parents and that they are fixed throughout our lifetime, but Dr. Sharon Moalem brings the idea that the environment may alter them. He states that the food we eat and the trauma we endure during life can imprint onto our genes. Dr. Moalem works with rare genetic disorders where he accumulates his knowledge from research to help treat his patients with changing some environmental factors in their lives.
Duchenne Muscular Dystrophy is a disorder that is both mentally and physically challenging. Duchenne Syndrome is caused by the mutation of a gene on the X-chromosome. A muscle protein, dystrophin, is affected by this mutation. The damaged gene cannot make enough dystrophin to work right, so it will result in DMD. Dystrophin is a protein that is associated with muscles in the heart, bones, and some in the nerve
Ataxia Telangiectasia Ataxia Telangiectasia (A-T) is an inherited disorder that affects the nervous system, immune system, and other systems of the body. The disorder usually progresses before the age of 5 and it makes it difficult for coordination and causes delayed development of motor skills like walking, problems with balancing, and using your hands to grab items etc. A person may even have slurred speech, sway when they walk and wobble. These problems can affect a person as they get older and the effects can become worse as the person ages.
The next thing we talked about was a genetic disease. Genetic disease is a disease that doesn't have a cure and is passed down through generations. Finally we learned about designer babies. Designer babies are when parent get to pick so of there kids traits. For example this is where a parent can pick blue eyes and brown hair for there child.
Parkinson’s affects the central nervous system eventually leads to triggering in the hand. Alzheimer 's is a disease that affects the memory and important mental functions. Dementia is when a person think a lot which interferes with their daily functions. Huntington’s an inherited condition when nerve cells starts to lose the ability over a period of time. Athletes who come in contact with sports are more like like to get it because in a game there is usually hitting each other or even getting injured dramatically.
Some of the problems of this disease is: Memory lapses ADL’s Medication management Social participation Inability to remember recent
TAY SACHS DISEASE: Tay-Sachs disease is a rare autosomal recessive disease which causes a gradual impairment of nerve cells and of mental and physical capabilities. The disease occurs when harmful amounts of cell membrane component called as gangliosides accumulate in the nerve cells of brain. People suffering from Tay-Sachs disease do not have a specific enzyme called hexosaminidase A (Hex-A). The deficiency of this enzyme causes a fat, GM2 ganglioside, to accumulate in the brain. It is this accumulation that causes the symptoms of Tay-Sachs.
wanted. Children do not like to be treated differently from others. Feelings of sympathy can lead to a vicious cycle. The child has the disease, others sympathize, which leads the child to feel sorry for himself, and the cycle continues. The knowledge that a child has Huntington’s disease can present problems for the parents in obtaining insurance for the child.
Human genetic modification is the manipulation of genes in human DNA so that defective genes don’t obstruct proper functioning, and so that inherited diseases are not passed on. Those against it may argue that genetic modification is simply unnecessary, immoral, or interferes with nature’s course. However, genetic modification overall is and will continue to be beneficial to the mental and physical health of the entire human species. Falling under the umbrella of biology, it is sensible to consider the studying of genes as a significant aspect of the biological sciences because it’s learning how to manipulate them in order to progress preventative medicine and create the possibility of a healthier future. One method of genetic modification
Over the last 30 years, immense scientific progress in the fields of neuroscience, cell biology, genetics, and technology has allowed us to examine and understand the brain in much more detail than before. Recently, a team of ten researchers from the UCLA Research Center and the University of Wisconsin tested a new software produced in Denmark called Neuroreader, a program used for measuring hippocampal volume. With this new program, the slightest changes in brain volume can be detected rapidly, allowing for earlier diagnosis of brain disorders including Alzheimer's. Indeed, such advancements have altered the way scientists think about Alzheimer’s disease (AD), a progressive brain disorder that gradually eliminates the patient’s memory and
Also, gene editing can get rid of conditions in unborn children. A breakthrough gene editing tool, CRISPR, is allowing researchers to be more and more accurate when modifying genes. This new technology allows researchers to begin to edit embryos and edit the genes that will lead to illness and disease. Preexisting conditions such as hemophilia, thalassemia, Tay-Sachs disease, spinal muscular atrophy, and Duchenne’s muscular dystrophy can all be treated by gene therapy. Tay-Sachs disease and spinal muscular atrophy both affect the brain and spinal nerves and neurons.
In the fishing villages near Lake Maracaibo, which is located in Venezuela, there are more individuals with Huntington 's disease than anywhere else in the world. In some of those fishing villages, more than half of the individuals living there may develop the disease. Scientist at first assumed natural selection would have removed such genetic deficiencies from the human population, however, after further research, scientist have suggested that there two main reasons for the increased occurrence of the disease. The first reason is mutation, which researches have concluded to be biased because additions of the CAG segment are more likely than losses
Alzheimer’s Diagnosis According to the Alzheimer's Organization, less than fifty percent of patients with Alzheimer’s Disease and their caregivers indicate that patients have a knowledge of their disease. Alzheimer’s is a progressive deterioration of the brain that causes memory loss and can happen during the middle or later years of a person’s life. Alzheimer’s patients deserve to be informed about their disease so that they can start to plan activities, get early treatment, and make financial decisions. The first benefit of patients being informed about Alzheimer’s diagnosis early on is that it gives patients time to make sound judgements on financial and medical decisions while they are still able.
The aim of this research is to investigate the autosomal dominant neurodegenerative disease called Huntington’s Disease (HD). This literary review will give a better understanding of how the disease affects the brain and body and what signs and symptoms to watch out for from the early onset to the later stages of Huntington’s Disease. People usually develop the signs of Huntington’s Disease when they are around 20 to 40 years old. The disease has a possibility of manifesting earlier than 20 years old, which is known as Juvenile Huntington’s Disease. This disease is inherited, the children have a fifty percent chance of contracting the DNA mutation from their parents.
A person does inherit a tendency to develop the disease. It may appear when the body goes through hormonal and physical changes or after dealing with highly stressful situations (MHA,