The Genetic Disorder Fatal Familial Insomnia
Fatal familial insomnia is a genetic disorder. It manifests itself by many symptoms due to the degeneration of a certain part of the brain, the thalamus. The disease also results in the formation of amyloid plaques. This is the build up of a waxy substance made of proteins associated with polysaccharides. The disease is a result of a mutation of a normal protein that is associated with brain tissue. This is the prion protein. In the case of fatal familial insomnia, the mutation occurs 178 amino acids into the normal protein. Were an asparagine should be, an aspartic acid is instead. This disease is an autosomal dominant, which means that both sexes are affected and there are no carriers. If an
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The first stage is progressive insomnia, the trade mark of fatal familial insomnia. The first stage develops over approximately four months and includes a collection of psychiatric problems such as panic attacks and bizarre phobias. The second stage includes hallucinations, panic, agitation and sweating and lasts about five months. The third stage lasts about three months and is total insomnia with weight loss. The individual at this point looks much older and may experience incontinence. The fourth stage is around six months long and is recognized as dementia, total insomnia and sudden death after becoming …show more content…
This treatment involves the insertion of the correct gene into an affected individual altering his/her gene expression making it what it should be for the expression of the correct protein. In order for this to happen, early diagnosis of an individual must be accomplished, possibly by the mentioned biotechniques above. This is so that the defective gene may be repaired before the onset of the disease. In order for this to be possible, the corrective gene must be isolated. Furthermore, the corrective gene must be good for transfer as well as a the proper vector to effectively execute the transfer. Because there is no cure for this illness, gene therapy may be the only answer if it is one day successful.
References
Guilleminault, C., Lugaresi, E., at el. Fatal Familial Insomnia: inherited prion diseases, sleep, and the thalamus. Raven Press, 1994. pp.15-20.
Klug, W.S., Cummings, M.R. Concepts of Genetics. Prentice-Hall, Inc., 1994. pp. 425-427.
Medori, R., Tritschler, H-J., at el. "Fatal Familial Insomnia, a Prion Disease with a
Mutation at Codon 178 of the Prion Protein Gene" New England Journal of
Medicine, 326 (7): 444-449 (1992).
Petersen, R.B., Tabaton, M., at el. "Analysis of the prion Protein gene in Thalamic
Dementia" Neurology, 42 (10): 1859-1863 (1992).
Return Case Studies in Virtual Genetics
In his article “Narcolepsy,” Jerome M. Siegel discusses the disease and its possible causes. To begin with, Siegel defines the symptoms and problems associated with the disease. Moreover, he states what exactly the disease is, his research into its causes and effects on the nervous system, and the possibility that the narcolepsy may be an autoimmune disease.
Chronic sleep loss is becoming more common in modern culture and less restricted to sleep-deprived diseases such as insomnia. Suggested to be the result of a number car, industrial, medical, and other occupational accidents, sleep deprivation is beginning to be recognized as a public concern. As a result, the Centers for Disease Control
...s exist as an inherited disease in some families. The majority of case studies show that the patients affected have no family history of the disease.
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
Sleeping disorders are a very common thing that people face every day. A sleeping disorder is when a person is unable to sleep or unable to stay asleep when they have the chance to do so. There are many things that impact a person through out the day, causing sleeping disorders but the two most common are stress and medical problems. Stress is so common in adults and college students preventing them from being able to fall asleep and getting the right amount of sleep they need each night. Medical problems such as sleep apnea and night terrors also do the same thing and are not curable. This is not good because many people cannot perform a normal day without the right amount of sleep the night before.
Millions of people suffer from the same tossing and turning every which way, getting their sheets all disarranged and their insistent minds abundantly worse. Patients often proclaim indications of insomnia while sitting in the family health clinic. Insomnia traits include hindrance falling asleep, continueing to awaken, and rejuvenating before wanted. One may suffer from insomnia if one shows signs of an increased difficulty in attentiveness, decreased communal or scholastic skills, and a diminished mood or enthusiasm. (Foldvary-Schaefer 111). Countless individuals deal with insomnia for a large amount of their lives and some choose differing treatments, while some do not use any treatments at all. While never being uncommon, the amounts of causes leading to insomnia come in boundlessly; finding new studies and stories every day.
We live our entire life in two states, sleep and awake1. These two states are characterized by two distinct behaviors. For instance, the brain demonstrates a well-defined activity during non-REM sleep (nREM) that is different when we are awake. In the study of sleep by Huber et. al., the authors stated that sleep is in fact a global state2. It is unclear whether this statement means that sleep is a state of global behavioural inactivity or the state of the global nervous system. The notion that sleep is a global state of the nervous system served as basis for sleep researchers to search for a sleep switch. The discovery of the sleep switch, in return, provided evidence and enhanced the notion that sleep is a global state of the nervous system. The switch hypothesis developed from the fact that sleep can be initiated without fatigue and it is reversible1. It was hypothesized that there is something in the brain that has the ability to control the whole brain and initiate sleep. Studies have found a good candidate that demonstrated this ability3. They found a group of neurons in the Ventrolateral Preoptic (VLPO) nucleus. It was a good candidate because it was active during sleep, has neuronal output that can influence the wakefulness pathway, and lesion in the area followed reduce sleep3. The idea that there is something that can control the whole brain and result sleep state supports the idea that sleep is a global state of the nervous system.
Narcolepsy is a neurological disorder that affects the control of sleep and wakefulness. This disorder causes a number of symptoms that will be discussed further in depth later on but they are, excessive daytime sleepiness (EDS), cataplexy, hallucinations, and sleep paralysis. Scientists and researchers believe that the cause of narcolepsy is a genetic mutation. This disorder can cause severe disruption to a person's daily life and routine and can be a cause of harm to the person with the disorder as well as those around him/her. There have been case studies and animal research and testing to further understand this disorder its cause and possible cures or medication. Which as of 2014 there is medication to help those with the disorder but there is no cure. To better understand this disorder we have to go more in depth on the topics I have touched on and more in depth on the disorder in general. We will be investigating all the above mentioned topics and more.
Sleep disorders are a very serious problem for a lot of people. It affects a lot of people 's lives, requiring them to have to live a very different life than the average person. The five most commonly known sleep disorders are insomnia, sleep apnea, sleepwalking, and narcolepsy. Sleep insomnia is when you have trouble falling asleep or staying asleep even when you have a chance to do so. Sleep apnea is when you have trouble breathing when you’re asleep. Sleepwalking is when you’re in a deep sleep and you start to walk around or perform some kind of complex behavior. People that are affected by these disorders have a very hard time either getting to sleep or staying asleep. I will be explaining what all of these disorders are and how they affect
It should be noted that the findings of this report are limited by the current knowledge available. As such public awareness of sleep deprivation and the science of sleep must be raised so that sleeping disorders such as sleep deprivation may be completely understood and treated.
There are three forms of sleep paralysis. Ramsawh (2005) found that when it occurs in non-narcoleptic individuals it is known to as isolated sleep paralysis (ISP). Another form is referred to as familial sleep paralysis, in which it is similar to ISP, but genetically transmitted (Levitt, 2009). The final form of sleep paralysis is narcoleptic sleep paralysis, which occurs as a symptom of Narcolepsy (Levitt, 2009). Isolated sleep paralysis episodes are characteristic with “infrequent attacks and a negative family history”, and familial sleep paralysis with “more frequent attacks and a positive family history” (Powell, 1998, p. 239). Each form of sleep paralysis is unique and different in the causes and symptoms they possess.
Sleep is a reoccurring act that is part of our daily lives. It is one of the most important elements of human health. The natural state of sleep has been studied throughout the years of human evolution. It occurs when hormones are released throughout the body to make the individual begin to fall asleep. The importance of sleep is often overlooked amongst humans, leading to a disorder. There are problems that occur in the human body that are of higher importance and require more attention. Sleep disorders should be viewed as a priority to humans because it alters human health, presents as a precipitating factor for other health problems, and can be treated quickly.
In this paper, it is focused on the basics of fatal familial insomnia (FFI) which is an autosomal dominant condition and the researchers of this paper were specifically focusing on the molecular genetics of the condition. The typical age for the condition to develop is between 48 -59 and as of when this study was published 15 families with no relations have been identified to have this ailment. Some general symptoms of this condition are that the patient is unable to pay attention without one sort of stimulus. In some extreme cases for this condition, it can result in death due to the patient going into a vegetative state for days to months. Some other symptoms that have been reported are Grand Mal seizures or uncontrollable jerking of limbs
Kales, A. (1972). The evaluation and treatment of sleep disorders : Pharmacological and psychological studies. In M. Chase (ed.)The Sleeping Brain. Los Angeles : Brain Information Service.
Sleep disorders are an underestimated public health concern considering that fifty to seventy million Americans are affected. Technological advances in the field of sleep have facilitated various theories to explain the need for and the purpose of sleep. Scientist have uncovered many types of sleep disorders such as insomnia, sleep apnea, and narcolepsy. Sleep disorders affect men ,women, children, the elderly, and the obese in different ways. Factors such as the number of children and the effects of menopause have been studied to determine their effects on sleep. Various treatments have been utilized ranging from non-pharmacologic to pharmacologic methods. Scientist have pinpointed areas of the brain that are involved in sleep deprivation and hormones that ultimately affect sleep.