Culture and Disease

Culture and Disease Paper
Stephanie Benitz
January 10, 2011
Kimberly Porter

Niemann-Pick Disease
Niemann-Pick disease is described as an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. The disorder has four main types based on the genetic cause and the signs and symptoms.

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Niemann-Pick disease type A appears during infancy and characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to gain weight and grow at the expected rate (failure to thrive), and progressive deterioration of the nervous system. Because of the involvement of the nervous system, Niemann-Pick disease type A is also known as the neurological type. Children affected by this condition generally do not survive past early childhood, and making it to the age of two and four. Children have known to even survive longer with possessing mental and retardation problems. Niemann-Pick disease type A occurs more frequently among individuals of Ashkenazi (a religious sect) Jewish descent than in the general population. The incidence within the Ashkenazi population is approximately one in 40,000. It was spread through generations of ancestors to time of age. As of the present time this known disease has affected millions of children to date, affected their brains and mental capacity to perform normal daily activities that many children across the world have been considered the norm.
Niemann-Pick disease type B has a range of features that may include hepatosplenomegaly, growth retardation, and problems with lung function including frequent lung infections. Other signs include blood abnormalities such as elevated levels of cholesterol and other lipids (fats), and decreased numbers of blood cells involved in clotting (platelets). Niemann-Pick disease type B is also known as the non-neurological type because the nervous system is not usually affected. People with Niemann-Pick disease type B usually survive into adulthood.
Niemann-Pick disease type C usually appears in childhood, although infant, and adult onsets are possible. Signs of Niemann-Pick disease type C include severe liver disease, breathing difficulties, developmental delay, seizures, poor muscle tone (dystonia), lack of coordination, problems with feeding, and an inability to move the eyes vertically. People with this disorder can survive into adulthood. Niemann-Pick disease type C is further subdivided into types C1 and C2, each caused by a different gene mutation.
By six months of age, affected babies experience feeding difficulty, recurrent vomiting and enlargement of the spleen and liver, which causes the abdomen to appear distended. Some children with the disease have a “cherry-red spot” in the retina of the eye. Death usually occurs between age two to four. One in 75 Ashkenazi Jews are carriers of Neimann-Pick Type A disease. Niemann-Pick disease is inherited in an autosomal recessive manner. When both parents are carriers of the gene mutations, there is a 1 in 4 (25%) chance in each pregnancy to have an affected child. The specific biochemical defect in Type A Niemann-Pick disease is the deficiency of an enzyme, sphingomyelinase (ASM), which normally degrades a fatty substance known as sphingomyelin. The enzyme defect leads to the accumulation of sphingomyelin, primarily in the liver, spleen, lymph nodes, and brain. Currently no treatment or cure for Neimann-Pick Type A disease.
Approximately 1,200 Type A or Type B cases diagnosed worldwide. It has been estimated that approximately two-thirds of all infants with Niemann-Pick Type A disease are of Ashkenazi Jewish descent. In 1997, the gene responsible for Niemann-Pick disease was discovered. This discovery has helped focus research for treatments. Gene therapy has shown effectiveness in mice for Niemann-Pick Type A disease. Bone marrow transplantation has been performed on a few patients with Type B with encouraging results. Researchers continue to study possible treatments, including enzyme replacement therapy and gene therapy. There is no specific treatment for Type C and D. A healthy, low-cholesterol diet is recommended, although research into low-cholesterol diets and cholesterol-lowering drugs does not show that these methods stop the disease from growing worse or change how cells break down cholesterol. However, medicines are available to control or relieve many symptoms, such as cataplexy, and seizures.
Well, three researchers at the University of Utah, anthropologist Henry Harpending, Gregory Cochran (a Ph.D. physicist turned genetic theorist), and Jason Hardy put forth a hypothesis that seeks to explain both mysteries simultaneously. Nicholas Wade of the New York Times has written one of the two news stories about it to date. The proposed hypothesis holds that Jews developed their genetic diseases as a side effect of strong selective pressures for higher intelligence during the Middle Ages as they were forced to work mainly in occupations that required greater cognitive ability.
Put these two together??”a correlation of intelligence and success, and a correlation of success and fecundity??”and there are circumstances that favor the spread of genes that enhance intelligence. They could be exactly the genes that cause the inherited diseases that afflict Ashkenazi society. This is just an ideal to be thrown in the mix and continued to be researched along with many other hypothesizes.
Even though this disease is severe and life-limiting, by knowing if both parents are carriers can prepare physicians to help them deal with pregnancy and what could happen by taking this chance. Their aren??™t known ways to prevent from extracting the life killing disease to their offspring, but by knowing the circumstance of the issues they may deal with can easily be over powering with the knowledge verse not knowing.
In conclusion, the disease is normally called the Niemann-Pick disease and it affects the abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. The factors that affect the population is the Jews, Jews are prone to this disease and was found from generations before known to date. There aren??™t really known environmental causes to this disease, if I had to draw a conclusion, I myself would say that the environment had nothing to do with this disease. The modes for disease transmission are both parents need to be carries in order for their offspring to inherit the disease. The methods needed for the spread of this disease it through the carriers DNA. The disease can??™t be cured but can be prevented without having sex and having the carriers get checked with scans.

References (2011). Niemann-Pick Disease Type A. Retrieved from
Genetics Home Reference. (2011). Niemann-Pick Disease. Retrieved from
Medline Plus. (2010). Niemann-Pick Disease. Retrieved from
The Jewish Federation of North America. (2011). Jewish Genetic Diseases. Retrieved from

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