Niemann-Pick type C (NP-C1)
Chromosome 18, one of the 46 chromosomes in each cell, divided into 23 pairs, has about 78 million DNA base pairs and represents approximately 2.5 percent of the total DNA in cells. It is also estimated to contain 200 to 300 genes. (Chromosome 18) A mutation in the chromosome can lead to a mutation of the genes located there. An example of this is 18q deletion syndrome caused by a deletion of genetic material from the long (q) arm of chromosome 18. The symptoms of 18q deletion syndrome are related to the loss of multiple genes in this region, which is characterized by mental abnormalities including intellectual disability or learning problems and many other issues. Some affected individuals even have a loss of …show more content…
There are two types of 18q deletion syndrome: individuals with deletions close to the end of the long arm of chromosome 18 have distal 18q deletion syndrome, and those with deletions near the center of chromosome 18 have proximal 18q deletion syndrome. One specific type of mutation leads to the Niemann-Pick disease. There are actually three different diseases that have the same name, they have been separated into types. Type A is most severe in infants, Type B is more rare. It is a chronic, non-neurological form. The last type is Type C, it is a “biochemically and genetically distinct form of the disease.” (Genes and Disease) Niemann-Pick Type C has been found to occur when there is a mutation in the NPC1 and NPC2 genes. These genes were discovered through the mutation. NPC is a membrane protein that mediates intracellular cholesterol trafficking in mammals. In humans it is encoded by the NPC1 gene, the chromosome location is 18q11. Type C is a nervous system lipid storage disorder. The inheritance mode of the disease transmission is autosomal recessively caused by loss-of-function mutations in either NPC1 or NPC2. This messes up intracellular lipid transport, causing the accumulation of lipid products in …show more content…
Niemann-Pick Disease was discovered in 1914 by Albert Niemann, who was a German pediatrician, when he found that one of his patients had a brain and nervous system impairment. Then in the 1920's, Luddwick Pick studied tissues of the original children found with this disease that had died. This gave evidence for the new disorder. (Genes and Disease) The NPC1 gene is also involved in other diseases that are more relevant today such as obesity, HIV-AIDS, and Ebola. A mutation of NPC1 is a major factor of obesity and recent studies have found that these mutations are a risk factor in childhood obesity and adult morbid obesity. Studies using mice have suggested that the NPC1 gene has a role in controlling appetite, because mice with a non-functioning NPC1 gene suffer late-onset weight loss and have poor food intake. (Epilepsy and chromosome 18 abnormalities, 2015) In HIV-AIDS, NPC1 mediates intracellular cholesterol trafficking pathways that are needed for efficient HIV-1 production. The NPC1 gene has also been found as essential for Ebola virus infection. Studies have found that the Ebola virus enters human cells after binding to NPC1. Mutations in the NPC1 gene in humans is actually believed as a possible mode to make some individuals resistant to the disease. This could be used in making an anti-viral drug. (Niemann-Pick Type C,
Chromosome 18, one of the 46 chromosomes in each cell, divided into 23 pairs, has about 78 million DNA base pairs and represents approximately 2.5 percent of the total DNA in cells. It is also estimated to contain 200 to 300 genes. (Chromosome 18) A mutation in the chromosome can lead to a mutation of the genes located there. An example of this is 18q deletion syndrome caused by a deletion of genetic material from the long (q) arm of chromosome 18. The symptoms of 18q deletion syndrome are related to the loss of multiple genes in this region, which is characterized by mental abnormalities including intellectual disability or learning problems and many other issues. Some affected individuals even have a loss of …show more content…
There are two types of 18q deletion syndrome: individuals with deletions close to the end of the long arm of chromosome 18 have distal 18q deletion syndrome, and those with deletions near the center of chromosome 18 have proximal 18q deletion syndrome. One specific type of mutation leads to the Niemann-Pick disease. There are actually three different diseases that have the same name, they have been separated into types. Type A is most severe in infants, Type B is more rare. It is a chronic, non-neurological form. The last type is Type C, it is a “biochemically and genetically distinct form of the disease.” (Genes and Disease) Niemann-Pick Type C has been found to occur when there is a mutation in the NPC1 and NPC2 genes. These genes were discovered through the mutation. NPC is a membrane protein that mediates intracellular cholesterol trafficking in mammals. In humans it is encoded by the NPC1 gene, the chromosome location is 18q11. Type C is a nervous system lipid storage disorder. The inheritance mode of the disease transmission is autosomal recessively caused by loss-of-function mutations in either NPC1 or NPC2. This messes up intracellular lipid transport, causing the accumulation of lipid products in …show more content…
Niemann-Pick Disease was discovered in 1914 by Albert Niemann, who was a German pediatrician, when he found that one of his patients had a brain and nervous system impairment. Then in the 1920's, Luddwick Pick studied tissues of the original children found with this disease that had died. This gave evidence for the new disorder. (Genes and Disease) The NPC1 gene is also involved in other diseases that are more relevant today such as obesity, HIV-AIDS, and Ebola. A mutation of NPC1 is a major factor of obesity and recent studies have found that these mutations are a risk factor in childhood obesity and adult morbid obesity. Studies using mice have suggested that the NPC1 gene has a role in controlling appetite, because mice with a non-functioning NPC1 gene suffer late-onset weight loss and have poor food intake. (Epilepsy and chromosome 18 abnormalities, 2015) In HIV-AIDS, NPC1 mediates intracellular cholesterol trafficking pathways that are needed for efficient HIV-1 production. The NPC1 gene has also been found as essential for Ebola virus infection. Studies have found that the Ebola virus enters human cells after binding to NPC1. Mutations in the NPC1 gene in humans is actually believed as a possible mode to make some individuals resistant to the disease. This could be used in making an anti-viral drug. (Niemann-Pick Type C,