Prader Willi Syndrome Essay
INTRO
Prader-Willi syndrome or PWS, is not a disease many people have knowledge about, or have even heard about it. Only about 1 in 25,000 children are born with this rare syndrome. In 1956, Prader-Willi was first described by Andrea Prader, Heinrich Willi, and Alexis Labhart. Prader and Willi, both Swiss pediatricians, and Labhart, an internist, were the first people to publish a report on this syndrome (Nord, 2015). In the research, they described characteristics observed of the affected children. Fetal activity, difficulties in feeding, underdeveloped sex organs, and short stature were amongst the long list of abnormalities seen in these children. In addition, psychological impairments and an increased risk of diabetes were found as patients …show more content…
Epigenetics (explain) are also studied, which is what the gene primarily expresses. Predominantly, three abnormalities are associated- chromosomal deletion, uniparental, disomy and genetic imprinting errors. Genetic imprinting is controlled methylation which is the chemical process of turning genes on and off. In patients, both genes from each parents is “turned off” therefore affecting the importance of the specific gene. Defecting imprinting can explain Prader-Willi syndrome, and various other diseases (like what) (Foundation for Prader-Willi Research, …show more content…
The genes provide instructions to make molecules called RNA. Ribonucleic acid has many jobs including, coding, decoding, regulation and expression of genes. Research shows the loss of RNA plays a significant role in the symptoms of Prader-Willi syndrome. The genetic changes of the genes occur randomly during the formation of the reproductive cells in embryonic development. There is normally no history of the disorder in the generations prior to the affected child (Chevalère, 2015). PWS affects the same amount of females and males and does not occur more in one gender. Also, people of all ethnic backgrounds have equal chances of becoming a PWS patient.
Prader-Willi syndrome or PWS, is not a disease many people have knowledge about, or have even heard about it. Only about 1 in 25,000 children are born with this rare syndrome. In 1956, Prader-Willi was first described by Andrea Prader, Heinrich Willi, and Alexis Labhart. Prader and Willi, both Swiss pediatricians, and Labhart, an internist, were the first people to publish a report on this syndrome (Nord, 2015). In the research, they described characteristics observed of the affected children. Fetal activity, difficulties in feeding, underdeveloped sex organs, and short stature were amongst the long list of abnormalities seen in these children. In addition, psychological impairments and an increased risk of diabetes were found as patients …show more content…
Epigenetics (explain) are also studied, which is what the gene primarily expresses. Predominantly, three abnormalities are associated- chromosomal deletion, uniparental, disomy and genetic imprinting errors. Genetic imprinting is controlled methylation which is the chemical process of turning genes on and off. In patients, both genes from each parents is “turned off” therefore affecting the importance of the specific gene. Defecting imprinting can explain Prader-Willi syndrome, and various other diseases (like what) (Foundation for Prader-Willi Research, …show more content…
The genes provide instructions to make molecules called RNA. Ribonucleic acid has many jobs including, coding, decoding, regulation and expression of genes. Research shows the loss of RNA plays a significant role in the symptoms of Prader-Willi syndrome. The genetic changes of the genes occur randomly during the formation of the reproductive cells in embryonic development. There is normally no history of the disorder in the generations prior to the affected child (Chevalère, 2015). PWS affects the same amount of females and males and does not occur more in one gender. Also, people of all ethnic backgrounds have equal chances of becoming a PWS patient.