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A Human Disorder, Involving Dysregulation of Epigenetic Mechanisms - Essay Example

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BWS is a condition that affects several parts of the body…
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A Human Disorder, Involving Dysregulation of Epigenetic Mechanisms
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"A Human Disorder, Involving Dysregulation of Epigenetic Mechanisms"

Download file to see previous pages A lot of people having this condition are born with an aperture in the abdomen wall that facilitates the protrusion of the abdominal organs through the navel. Many infants with BWS have tongues that are abnormally long (macroglossia) which can interfere with swallowing, breathing, and speaking. BWS’s other features include abdominal organs that are abnormally large (viscreromegaly), pits or creases in the skin near the ears, kidney abnormalities, and low blood sugar (hypoglycemia) in infant (Baum, et al, 2007 pg 78).
The genetic causes of BWS are complex. It results from regulation of genes that is abnormal in a given region of chromosome 11. People usually inherit a single copy of this chromosome from each parent. In many genes of chromosome 11, each of the two copies of the genes is expressed (turned on) in the cells. However, for some genes, only the gene inherited from the father (paternal copy) is expressed while for some, the copy inherited from the mother (maternal copy) is the only one expressed. These parent specific differences in the expression of the gene are caused by genomic imprinting phenomenon. Abnormalities which involve genes on chromosome 11 that experience genomic imprinting are the cause of many cases of BWS.
Typically, half of the cases are at least caused by changes in the methylation process. In genes that experience genomic imprinting, methylation is among the ways that parents of the gene of the origin are marked at the time of the creation of the egg and sperm cells. ...Download file to see next pagesRead More
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