quora
Nobody downloaded yet

Prader-Willi Syndrome and its Linkage to Genetics - Essay Example

Comments (0) Cite this document
Summary
Prader-Willi Syndrome and its Linkage to Genetics Name: Institution: Table of Contents Contents Page 1. Introduction………………………………………………………….3 2. Phenotypic Features Associated With the Disease………………….4 3…
Download full paperFile format: .doc, available for editing
GRAB THE BEST PAPER94.9% of users find it useful
Prader-Willi Syndrome and its Linkage to Genetics
Read TextPreview

Extract of sample
"Prader-Willi Syndrome and its Linkage to Genetics"

Download file to see previous pages Diagnosis and Treatment of Prader-Willis Syndrome…….….…….9 7. Conclusion………………………………………………….………10 8. References……………………………………………..….………..12 Prader-Willi Syndrome and its Linkage to Genetics Prader-Willi Syndrome, moreover referred to as PWS, is a genetically linked disorder that afflicts various parts of the human anatomy. The disorder presents as hypotonia during infancy, coupled to delayed physical development, stunted growth, and difficulties in feeding. The carrier begins to develop an unusually high appetite beginning in childhood, which results in hyperphagia or continuous over-eating, as well as overweight and obesity (Cassidy & Driscoll 2009). For individuals carrying the defective genes that cause PWS, especially those afflicted by obesity, a high prevalence of Diabetes Mellitus II exists. The genetic disorder was first characterized by Heinrich Willi and Andrea Prader before research by Guido Fanconi, Andrew Ziegler, and Alexis Labhart provided more information on the disorder. Prader-Willi Syndrome, as a genetic disorder, involves alterations on chromosome 15(q11-13), whereby seven genes on this chromosome are deleted (Goldstone 2009). Alternatively, the 15q chromosome is not expressed because of a partial deletion on the paternally derived chromosomes. This disorder is prevalent in between 1 in 10,000 and 1 in 25,000 of the population. The origin of the defective genes from paternal chromosomes is especially important since the region of the chromosome involved is affected by imprinting from parent origin. This means that only a single gene copy undergoes expression with the other corresponding gene being silenced via imprinting. For those genes that are affected in PWS, the gene that normally undergoes silencing or imprinting is the maternal copy with the expression of the paternal gene copy going ahead (Goldstone 2009). The result of this is that, the carrier only has one working copy of this gene and these PWS carriers possess one silenced copy and one copy that does not work. Prader-Willi Syndrome has a sister syndrome that is known as Angelman Syndrome, which involves maternally-derived genetic material at the same exact genetic location as PWS. While Prader-Willi Syndrome is considered as a rare genetic disorder, it occurs commonly in a majority of genetic clinics, being obesity’s most common genetic cause as identified to date. Prader-Willi Syndrome is prevalent in people of all races, ethnic backgrounds, and gender (Cassidy & Driscoll 2009). Phenotypic Features Associated With the Disease The basis for most of the symptoms presenting in PWS may be due to the brain’s hypothalamic region’s dysfunction (Gelehrter 2008). The hypothalamic region of the fetus is vital during child labor and its deregulation may help to explain the high number of post-mature or pre-mature births for children later diagnosed with PWS. Abnormal release of Luteinizing Hormone is thought to cause the decreased amount of sex hormones that result in testes not descending, small sized gonads, insufficient growth over puberty, and amenorrhea. Hypothalamic deregulation causes deficiency of growth hormone that contributes to reduced energy expenditure due to a deficit in lean body mass and excessive body fat. Disturbance of hypothalamus action also leads to daytime hyper-somnolence and aberrant body temperature control. Hyperphagia and insatiable hunger ...Download file to see next pagesRead More
Cite this document
  • APA
  • MLA
  • CHICAGO
(“Prader-Willi Syndrome and its Linkage to Genetics Essay”, n.d.)
Retrieved from https://studentshare.org/biology/1464220-prader-willi-syndrome-and-its-linkage-to-genetics
(Prader-Willi Syndrome and Its Linkage to Genetics Essay)
https://studentshare.org/biology/1464220-prader-willi-syndrome-and-its-linkage-to-genetics.
“Prader-Willi Syndrome and Its Linkage to Genetics Essay”, n.d. https://studentshare.org/biology/1464220-prader-willi-syndrome-and-its-linkage-to-genetics.
  • Cited: 0 times
Comments (0)
Click to create a comment or rate a document
CHECK THESE SAMPLES - THEY ALSO FIT YOUR TOPIC
GENETICS
Generally, if there is a heritable factor, then the cancer will occur earlier in life than a sporadic condition. However, it is important to note that people do not inherit breast cancer, but rather an increased likelihood of having the disease . Around 20 – 30% of women who have breast cancer have the disease occurring within their family, however there are also many environmental risk factors, such as use of alcohol or exposure to radiation .
14 Pages(3500 words)Essay
Obesity results from the sin of gluttony
The author of this essay explores what obesity is and who it affects, as well as exploring what pressures the huge prevalence of this illness is putting upon society and the human body. This essay also considers the treatments obesity needs and how society can prevent. Obesity is now the world’s most important and influential preventable disease.
15 Pages(3750 words)Essay
Prader willi syndrome
The syndrome is characterized by obesity, mental retardation, short stature, hypotonia, and loss of sexual functions. The risk factors for the disease are not known as it is a genetic disease which affects the children generally irrespective of their surroundings.
4 Pages(1000 words)Essay
PWS: Prader-Willi Syndrome
Clinical manifestations of this disease include hypotonia, hypo-gonadism(small genitalia, absent or delayed pubertal development, infertility), hyper-phagia(morbid obesity), sleeping disorders, short stature, temperature dys-regulations, osteoporosis, scoliosis, growth hormone insufficiency (Cassidy and Driscoll, 2009), mental retardation, developmental disabilities, high pain threshold, skin picking(Yearwood etal., 2011) and behavioral characteristics such as compulsive behavior, psychiatric disorders and cognitive delays.
3 Pages(750 words)Article
Metabolic syndrome and its management in schizophrenia
As a rule, speaking about schizophrenia, the researchers focus upon the clinical aspect of the illness and social adaptation of people suffering from it. However, one more important aspect of studying schizophrenia is the influence it produces upon health and lifespan.
2 Pages(500 words)Essay
GENETICS
Here a gene could be cut into small fragments, and a fragment from another gene having a different make up, can be inserted between the cut fragments, and then reattached together to form a completely new gene. There are many
12 Pages(3000 words)Essay
Genetics
ant trait) and the other that is a short plant (recessive trait) is expected to produce an F1 (first) generation of plants that are al tall because the allele of tallness would dominant to shortness in the offspring produced. However, all plants produced in F1 generation would
4 Pages(1000 words)Essay
Genetics
The human cells consist of 46 chromosomes. Of these, two are sex chromosomes and 22 pairs are autosomal chromosomes. The sex of a human being is
8 Pages(2000 words)Essay
Genetics
Each gene codes for a specific protein in the body by specifying the order that the amino acids needs to be joined together. The function of the DNA in the body is carrying genetic code of information that determines the characteristics of a living thing but it is
10 Pages(2500 words)Essay
Genetics
If you fertilize a trisomic Jimson weed plant, what zygotes would be formed? Tell which zygotes are diploid and which are trisomic. Assume that only the univalent mode occurs during meiosis; 2. Down syndrome can result from a Robertsonian
3 Pages(750 words)Essay
sponsored ads
We use cookies to create the best experience for you. Keep on browsing if you are OK with that, or find out how to manage cookies.
Let us find you another Essay on topic Prader-Willi Syndrome and its Linkage to Genetics for FREE!
logo footer
Contact us:
+16312120006
Contact Us Now
FREE Mobile Apps:
  • StudentShare App Store
  • StudentShare Google play
  • About StudentShare
  • Testimonials
  • FAQ
  • Blog
  • Free Essays
  • New Essays
  • Essays
  • Miscellaneous
  • The Newest Essay Topics
  • Index samples by all dates
Join us:
Contact Us