Understanding Huntington's Disease Huntington's disease is an inherited neurodegenerative disorder. It is passed on to children from one or both parents (though two parents with Huntington's is extraordinarily rare) in an autosomal dominant manner. This is different from autosomal recessive disorder, which requires two altered genes (one from each parent) to inherit the disorder. So if one parent has it, and passes the gene on to a child, that child will develop Huntington's disease if they live
MUTANT HUNTINGTIN PROTEIN AGGREGATION AND PROTEASOMAL DISFUNCTION AN INSILICO STUDY 1. INTRODUCTION 1.1 Huntingtons Disease Huntington’s disease (HD) is a progressive autosomal dominant neurodegenerative genetic disorder. HD was originally named Huntington’s chorea after Dr.George Huntington, an American physician who first gave a detailed note on the symptoms and course of the disease in 1872.Recently the name has been changed to Huntington’s disease to emphasize the fact that chorea is not the
Huntington’s disease is a progressive, fatal, neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene, which encodes an abnormally long polyglutamine repeat in the huntingtin protein Huntington’s is a disease that advances very slowly over a lifetime, it is hereditary. HD is a disorder that causes changes in the brain. Which affect mobility, mood and the ability to think clearly. Each year about two thousand people are diagnosed with HD. One thousand fifty people are at
obituary of well-known folk singer and composer Woody Guthrie, who suffered from the disease for thirteen years. In normal circumstances, every child... ... middle of paper ... ...RNA interference technology shuts down the normal and the abnormal huntingtin gene (Miller). Works Cited Appai-Kubi, Linda. Chaudhuri, K. Ray. “Huntington’s disease.” 9 January 2001. Web. 22 March 2012. Folstein, Susan E. Huntington’s Disease. Baltimore: The John’s Hopkins University Press, 1989. Print. Genetic
Huntington’s Disease Rahma Suhyinni Mumuni Biology 3 Mrs. Laurencig 05/16/14 Huntington’s Disease About 30,000 people in the United States have Huntington's Disease, affecting men and women equally among all ethnic and racial backgrounds (helpguide.org). While its more common in adults, juvenile Huntington's occurs in one-sixth of all cases (helpguide.org). Huntington's Disease (HD) is a devastating, hereditary disease that slowly decreases the affected person's capability to walk, talk
HTT provides instructions to make a protein called Huntingtin. The protein Huntingtin plays a important role in the nerve cells of the brain. The multiple repeats in the Huntington’s gene are known as “CAG”. “CAG” is Cytosine, Adenine, and Guanine in DNA. The brain cells cumulate clumps of “CAG”, (from the repeated
umich.edu/doc/educ/dnapr/sequencing.html Mahdieh, N. & Rabbani B. (2013). An Overview of Mutation Detection Methods in Genetic Disorders. Iranian Journal of Pediatrics, 23(4), 375-388. PMCID: PMC3883366 National Institute of Health. (2014). HTT huntingtin [ Homo sapiens (human) ]. Retrieved from U.S. National Library of Medicine, Genetics Home References website: http://www.ncbi.nlm.nih.gov/gene/3064 National Institute of Health. (2013). Genetic Testing. Retrieved from U.S. National Library of Medicine
another way of saying Huntington’s disease. On Figure 1.0 you can see a person who has been affected with HD. Cause of Huntington’s Disease The cause of this is caused by a defect on chromosome 4. This gene is in control for building proteins called huntingtin. Chromosome is a construction of nucleic acids and protein. It brings genetic information in the form of genes. The defect on the gene defines that specific proteins are required to make brain substances that can’t be prepared in the brain normally
Cracking Your Genetic Code: A Review of Genetic Testing In Gattaca, the plot focuses on the ethics, the risks, and the emotional impact of genetic testing in the nearby future. The film was released in the 90s; yet in the present, the film does not give the impression of science fiction. Today, genetic testing is prevalent in many aspects of the scientific community. This paper will describe genetic testing, its purpose, diagnostic techniques that use genetic testing, relating Huntington’s disease
Glutamate – An Excitatory Neurotransmitter Neurotransmitters are essential for transferring information between neurons and are released from a presynaptic terminal into a synaptic cleft. When the neurotransmitters bind to the postsynaptic receptors (specialized protein molecules that capture and react to molecules of the neurotransmitter), it induces an ionic flux which depolarizes the neuron. Neurotransmitter binding may also cause metabolic changes such as the activation of secondary messenger
In 1970 Francis Crick published a paper in the science journal Nature on the central dogma of molecular biology, presenting the normal flow of genetic information, as shown in Figure 1 (Crick, 1970). Although many discoveries have been made since then, the main idea still stands: every organism uses its own DNA sequence to synthesize its proteins (Crick, 1970). In order to function properly, the genome has to be kept unblemished, any damage can potentially affect a protein’s structure, interfering
two to eight per 100,000 inhabitants of Western countries. Huntington’s also has a slow onset with an average age of onset around 40 (Wider & Luthi-Carter, 2006). Wider and Luthi-Carter (2006) note the cause of this disease to be a mutation in the huntingtin gene, which can be characterized by distinct symptoms. Chorea, from the Greek “to dance”, is the main distinguishing feature of this mutation and is described by Wider and Luthi-Carter (2006) as rapid involuntary movements that manifest as eyelid