p.p1 Niemann-Pick disease type B commonly presents in

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Niemann Pick Disease (NPD) is an inherited condition caused by abnormal lipid metabolism. This abnormality leads to dangerous amounts of fat to gather in essential organs of the body. Since it affects many body systems, it also has a wide range of symptoms that differ in severity. The disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition. Niemann-Pick disease type A appears during infancy and is characterized by an enlarged liver and spleen. Infants affected generally do not survive past early childhood. Type A of this disease is caused by mutations in the SMPD1 gene and is inherited in an autosomal recessive pattern. This gene provides instructions for producing the enzyme, sphingomyelinase, responsible for the conversion of fat. Mutations in SMPD1 lead to a shortage of this enzyme, resulting in reduced breakdown and accumulation of fat in cells. This lipid buildup causes cells to malfunction and eventually die. Over time, cell loss impairs function of tissues and organs such as the liver, spleen, and brain.  On the other hand, Niemann-Pick disease type B commonly presents in mid-childhood but is caused by mutations in the same gene. The signs and symptoms are similar to type A but are not as severe as these individuals often survive into adulthood. Niemann-Pick disease types A and B are estimated to affect 1 in 250,000 individuals. Niemann-Pick disease type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in the general population. The incidence within the Ashkenazi population is approximately 1 in 40,000 individuals. Furthermore, The signs and symptoms of Niemann-Pick disease types C1 and C2 are very similar but differ in their genetic cause. These types usually become apparent in childhood, although signs and symptoms can develop at any time. Mutations in either the NPC1 or NPC2 gene cause Niemann-Pick disease type C. The proteins produced from these genes are involved in the movement of lipids within cells. Mutations in these genes lead to a shortage of functional protein, which further prevents the movement of cholesterol and other lipids. This eventually leads to fat accumulation in cells, impaired cell function and cell death, causing tissue and organ damage. Both of these types are estimated to affect 1 in 150,000 individuals; however, type C1 accounts for 95 percent of cases. The disease occurs more frequently in people of French-Acadian descent in Nova Scotia. There is currently no effective treatment for any type of NPD, intensifying the need for genetic testing even further. 
The diagnostic test most commonly used for NPD is a biochemical analysis using a filipin assay. It includes taking a skin sample to assess the quantity of the spingomyelinase enzyme in white blood cells for types A and B. For type C, cell movement and cholesterol accumulation is analyzed. Though skin assays are beneficial for diagnostic purposes, genetic testing provides individuals with the ability to search for disease causing mutations, or mutations that increase the ability to develop any disorders. Genetic testing provides individuals with knowledge of what mutations they possibly carry, and which ones can be passed down to future generations. 

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Genetic testing has come a long way since it was first discovered as more people are aware and knowledgable about genetic mutations. However, the decision to get a genetic test should not be taken lightly. Before making such an important decision an individual needs to understand the pros and cons of such techniques. Genetic testing offers insight, decreases uncertainty, and allows people to make well-informed decisions regarding their future. A clearer portrait of risk can guide medical care. Certain genes are associated with more severe diseases while some respond to certain medications and treatments better. This may lead to additional diagnostic testing/monitoring and healthy lifestyle shifts. With these benefits though, there also comes limitations. For instance, not everyone is eligible to undergo genetic testing. To get tested, a relative must already have been affected by a disease/disorder, and been genetically tested, too. Next, not all disorders are tested as the testing is targeted. Thus, if you are a carrier for Huntington’s Disease but there were no symptoms present in your family, you will not be eligible to get tested and may miss the risk of being a carrier. These tests can also be very costly as the price ranges from a few hundred dollars to several thousand dollars. Despite these flaws though, I believe individuals planning to have children should get tested as it may provide them with a sense of relief and comfort in having more control. Knowing that a particular mutation is absent can help people ease anxiety about their own health and their children’s. Individuals can make informed decisions about managing their health whether or not they test positive for certain mutations.