Genetic Disorders: Prader Willi Syndrome

Waardenburg Syndrome is a group of genetic conditions that can lead to hearing loss and changes in the color of hair, skin, and eyes (Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot be cured, treatments can be given to lessen the effects. Like other diseases, Waardenburg Syndrome has certain symptoms, inheritance patterns, diagnosis and treatments.

Usher syndrome is a genetic disorder that causes its victims to get retnis pigmentosa (RP), or a disease that affects someone’s retinas resulting in tunnel vision, and hearing loss. The most common gene that becomes mutated is gene USH2A, this is a protein producing gene. It is a mutated recessive gene, meaning that in order to inherit Usher syndrome both parents have to be carriers of it. Once the child gets Usher syndrome, they will experience loss of eyesight and hearing.

Prader-Willi is caused by either deletions, failure in imprinting, or monosomy/disomy 15 from the father’s side. The genes involved are known to include, but are not known to be limited to SNRPN and NDN. NDN odes for the protein Necdin, which, in rodents, interacts with neurotrophin receptors in a way that is not completely understood to promote normal cognitive development. SNRPN codes for several products, including small nucleolar RNAs, a splicing factor involved in RNA processing, and a polypeptide known as SNURF. The precise role of this gene is unknown.

PKU, also known as Phenylketonuria, is a genetic disorder that builds up the amino acid phenylalanine in the human body. This genetic disorder is known to be an example of the norm of reaction. The norm of reaction defines itself as a phenotype range that a person with a certain genotype reveals due to the differing of a certain environmental condition. Since this genetic mutation targeted the gene that encrypts the enzyme phenylalanine hydroxylase, it shows that if a person has one and/or two copies of that certain gene, that person would have the ability to eat and metabolize foods with phenylalanine. But, if a person has two copies of the mutated gene, they wouldn’t be able to eat nor metabolize foods with phenylalanine because if a person with PKU were to ingest foods with phenylalanine, the amino acid will accumulate in their body and become highly toxic to the person and the PKU homozygotes will lead to an assortment of detrimental symptoms, which currently occurs in about 1 in 10,000 babies.

Prader-Willi syndrome, (PWS) is a genetic disorder that occurs in about one in every eight thousand births in the United States. PWS occurs when there is a defect or deletion in the fifteenth chromosome from either maternal or paternal origins. Individuals diagnosed with PWS need enhanced supervision to address the constant need to over eat. Current research identifies that the paternal chromosome presents with significant maladaptive behaviors. Behavioral issues commonly known to the disorder differ dependent on the origin of the parental chromosome.

Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.

Never had an idea was what Prader Willie Syndrome and how serious is this condition. You can actually observed two individual that are diagnose with PWS but are two totally different individuals. At the beginning of the documentary you can observe that Joe was struggling being away from home and had too much anger, and Tamara have gone through a lot in her life and not having her mom support has being very hard. The program in general is a good program, which it promote healthy eating and it that aspect it has help Joe and Tamara loose the weight, but there are things that I am not in accordance with the program, if this individual have a hard time with romance relationship I don’t think they should be encourage to date. I was surprised when

Tay Sachs Disease is an inherited disorder that kills nerve cells in the brain, and also in the spinal cord. A couple of things that could cause this mutation is a missing enzyme. This is an enzyme called ganglioside, that is a fatty substance. Another reason why tay sachs could appear is a change in chromosomes. This is chromosome number 15. The gene is the HEXA gene, or hexosaminidase A. This is a recessive disorder that you can only inherit if both parents have tay sachs. Some symptoms to know if you have this disease is weakened muscles, startling of loud noises, seizures, hearing loss, blindness, and paralysis. If you’re an infant and you have tay sachs disease, you will start to gain abilities, like crawling, but then start to lose them.

From Cystic Fibrosis to Down’s Syndrome and Sickle Cell Anemia, there are tens of thousands of genetic disorders, with many more to be discovered. The fascinating thing about genetic disorders is that when we were born it’s a gamble whether or not we would come into this world with a genetic disorder. Although genetic disorders are quite rare and we take being born without one as granted, there are many out there that live with these disorders everyday. My research paper will focus on the specificalities of a few genetic disorders, the disorders presented in my paper are Marfan Syndrome, Hutchinson-Gilford Progeria, Cystic Fibrosis, and Sickle Cell Anemia. My paper will encompass important specifics

Fragile X Syndrome is a genetic disorder in a individual genes. It can causes mental retardation.

Prader-Willi Syndrome causes overeating and never feeling full that leads to type 2 diabetes that can eventually lead to death. 1 in 10,000 to 30,000 people get PWS. People with PWS have chronic overeating and distinctive overeating. It is caused by loss of chromosome 15 or not getting it from the dad’s side, also the lost of the gene called (OCA2). PWS is an autosomal genetic disorder disease caused by the deletion on chromosome 15 or not getting chromosome 15 by the father. Victims with this disorder experience chronic over eating and distinctive facial features(Prader-Willi Syndrome. genetics). A treatment can be therapies.

A genetic disorder is a mutation in an organisms DNA. It is caused by a change in the sequencing of the nucleotides that make up a specific gene. The genetic disorder can be inherited by offspring, but it may or may not show in the offspring depending on whether the genetic disorder is a dominate or recessive allele. There are many genetic disorders that humans develop and inherit. Some disorders cause improvements within the human species while others cause severe retardation of the human species. In this paper, the genetic disorder Angelman Syndrome will be discussed.

Since it does not affect nutrition and meal absorption at all, it is presumed not to impair children’s growth, while it provokes consistent weight reduction (Velhote et al., 2007).

Prader-Willi syndrome is described as being caused by the function of genes in a particular region on chromosome 15 getting lost. Individuals with this syndrome will have a difficulty eating while they are in early infancy stages, however, later on in childhood over eating will cause morbid obesity. There are three main mechanisms for how this happens at the genetic level. The first one is when there is a deletion of the 5-6 Mb regions of paternal chromosome 15 (GHR 2014). Because the paternal regions were deleted and the genes on the maternal copy are inactive, this change causes people to lack important genetic information. Another mechanism the inheritance of two copies of maternal chromosome 15. This means that both members of the chromosome

In conclusion, genetic disorders mutate the DNA and in some cases, delete portions of it. Williams Syndrome is a genetic disorder that affects the genetic material on the seventh chromosome. The locus of 7q11.23 has over 25 genes deleted, which is why Williams Syndrome has so many implications and symptoms. Distinct facial features and facial structure characterize Williams Syndrome. It can also be marked by severe cardiovascular difficulties and other issues that make life quite difficult for the person suffering from this disorder. Williams Syndrome also affects the mental capacity and logical thinking of the brain. This implies that daily tasks and schoolwork can be greatly affected and require special care. Williams Syndrome is also considered