Niemann-Pick Research Paper

Since neither me nor anyone else in my family is afflicted with this horrible, pain-staking disease, I have no first hand knowledge regarding the issue. It seems to me that a person can not understand this disease without being

There are many diseases in the world that can have severe negative impacts on a person and their family. Many neurodegenerative diseases are caused by genetic mutations. This essay will be discussing the similarities and differences between the diseases of Tay-Sachs, Alzheimer’s, Parkinson’s and Fragile X as well as their symptoms, treatments and intervention strategy’s.

Sickle cell anemia occurs when a person inherits two abnormal genes (one from each parent) that cause their red blood cells to change shape. Instead of being flexible and round, these cells are more rigid and curved in the shape of the farm tool known as a sickle - that's where the disease gets its name. The shape

What parts of the body does it affect? How common is it? Are there multiple forms/causes for developing the condition? How long can an individual survive?

Since children lack the HEXA-A gene it causes progressive damage and eventually the nervous system will shut down because it can no longer produce vital neurons needed to function the nervous system and life. Beta-hexosamindinidase is located in the lysosomes, which are structures in cells that act as recycling centers and breaking down the toxic substance. Beta-hexosamidnidase role is toxic and fatty substances called GM2 ganglioside. If the gangliosides become overpowering or too much, can cause destruction of the neurons. The excessive storage of the gangliosides in lysosomes is another factor that causes Tay-Sachs. Tay-Sachs occurs usually when the individual lacks the protein hexosamindinidase A and defected and alterations on chromosome 15 (specifically 15q23-q24). More than 50 mutations having been discovered on chromosome 15 and HEXA-A enzyme. The mutation can vary as in deletion, insertion, and splitting in which each mutation alters the protein. The mutation and disorder cause a decrease in enzymes activity. The severity of the disorder depends on the degree of the enzyme activity and deficiency. For example, one mutation includes, the mutation includes a G-to-T substitution at the 3-inch end of intron 5, which makes a short mRNA. Then skipping exon 6 and the polypeptide lacking 34 amino acids. (Tanaka

This place of solidarity was carried through the wind as if it was a dandelion seed waiting to be planted gracefully in the right ear. Most people would say the road to Settles Point is bumpy and rigid, but when the destination is reached there is nothing but vigorous growth and purity at the seams.

Tay Sachs is a genetic disorder that occurs when there is a missing enzyme in the body. This causes a buildup of fatty substances in the nervous system (Gale). Beta-Hemosaminidase, or HexA, is the missing enzyme that causes the various nerve disorders that happen within Tay Sachs (NTSAD). This disease is inherited in a few different areas of the world, but it is most commonly

Tay-Sachs disease is an autosomal fatal genetic disorder, it is also a form of lipid metabolism disorder. Due to a buildup of fatty substances in

The genetic mutations that cause this disease are more commonly found in the Ashkenazi people with a Jewish heritage than those with other backgrounds. French-Canadian communities of Quebec, the Old Order amish community in Pennsylvania, and the Cajun population of Louisiana, are more responsible for the mutation for this disease. The HEXA has been discovered for the cause of Tay Sachs. The gene provides for making part of an enzyme, which is cause, "beta-hexosaminidase A", which plays an important role in the spinal cord and brain. Disruptions in the HEXA gene messes with the activity of beta-hexosaminidase A, and then prevents the enzyme from breaking down GM2 ganglioside. This results the the substance accumulating to toxic levels in the neurons in the brain and spinal cord. Continuous damage caused by the build up of GM2-ganglioside leads to the destruction of the neurons and thus causes the signs and symptoms of Tay-Sachs

The American Civil War ended in 1865. In 1866 and 1867, the Johann and Rike are living at 1111 Allen Avenue. As a renter, they often change residences while always remaining in the Soulard neighborhood. The streets in Soulard are lined with two story brick houses most of which are multifamily flats that are rented. This house is a 4-family flat with two families living upstairs and two living downstairs. Johann and Rike live in three rooms arranged one after the other with a cooking stove, beds, and basic furniture. Those who live downstairs enter through the front and those who live upstairs enter through a back door. Their back yard is cluttered with a coal sheds for coal is burned to provide heat during the chilly winter months. (L15) (L207)

During his time as president, he had done many acts, many of them had wanted the U.S to remain independent. The first act he had signed was the "Judiciary Act of 1789" and it was that the federal judiciary of the United States. Another was "Jay's Treaty" and the act was that they would be able to solve problems that were left out after or during the American Revolution. Pickney's treaty was established in 1795 and it was an act or treaty that they had signed with Spain and made a friendship between

Today it is now wide spread to about 400 million people, about 4% of the world population. It is mainly found in Africa, Asia, and the Mediterranean. It is affecting 1 in 10 African Americans in the United States. It is diagnosed through mainly drugs, such as Aspirin. It is treated through terminated drug use, transfusion, and medicine if infection follows. The disease had helped understand the cause of hemolytic anemia in people, and the cause of anemia in the first place. If the gene were suppressed, it can stop one from getting

Niemann-Pick Disease is an autosomal recessive disease, passed down through carrier parents, where lipids gather in the cells of the spleen, liver, and brain creating an obstruction. There are four known forms of the disease, Type A, Type B, Type C, and Type D, in which Type A and B compose Type I and Type C and D make up Type II. Type A and B are due to a mutation in the SMPD1 gene that causes a lack of the enzyme acid sphingomyelinase (ASM) which metabolizes sphingomyelin. When there is an absence of sphingomyelinase the excess buildup of sphingomyelin kills multiple cells, which leads to the stopping of organ function. The symptoms of Type A include: abdominal swelling, redness in the eye, eating difficulties, and loss

Niemann-Pick Disease is an autosomal recessive disease, passed down through carrier parents, where lipids gather in the cells of the spleen, liver, and brain creating an obstruction. There are four known forms of the disease, Type A, Type B, Type C, and Type D, in which Type A and B compose Type I and Type C and D make up Type II. Type A and B are a response to the lack of the enzyme acid sphingomyelinase(ASM) which metabolizes sphingomyelin. When there is an absence of sphingomyelinase the excess build up of sphingomyelin kills multiple cells stopping organ function. Symptoms of Type A include: abdominal swelling, redness in the eye, feeding difficulties, and loss of motor skills. Type A is the more severe of situations, not offering

causes many issues and symptoms to certain individuals, the disease can be serious and deadly.