Preview

Niemann Pick Disease Research Paper

Better Essays
Open Document
Open Document
1295 Words
Grammar
Grammar
Plagiarism
Plagiarism
Writing
Writing
Score
Score
Niemann Pick Disease Research Paper
Niemann Pick Disease

A genetic disease is defined as being a disease or disorder that was inherited genetically by an offspring from his or her biological parents. These diseases or disorders can vary in effects and consequences towards the human bodies and may also greatly differ from one organism to another, however they can equally have identical results. They tend to affect the genes, chromosomes, cells and a few other parts of the body by altering, deleting, substituting, etc. the components of the previously mentioned areas. Some of these diseases in Nova Scotia are isolated and known as Usher 's Syndrome, Friedreich 's ataxia, Niemann Pick Disease, Fabry Disease and Charcot-Marie Tooth Disease. Interestingly enough, Niemann Pick Disease involves the metabolism of the human body which in turn, once affected, tends to spread and impact other organs like the liver, spleen, lungs and more. In this report, an explanation of Niemann Pick Disease, as well as the advantages and disadvantages for individuals with this condition knowing its origin and finally the ethical implications regarding the research of this disease will be given.

What is Niemann Pick Disease?
…show more content…
It is also known as an autosomal recessive disease which means the parents are carriers of the affected gene however they will show no signs of symptoms1. This condition affects the lipid metabolism of human beings with this disorder and because of this, large harmful amounts of lipids begin to amass in the spleen, bone marrow, lungs, liver and finally the brain. In order to fully understand the depth and importance of this, it must be clear that "lipid metabolism" means the breakdown, transport and use of all the body fats and

You May Also Find These Documents Helpful

  • Good Essays

    According to American Journal of Neuroradiology (2002), leukodystrophy is a progressive disease of myelin sheath in which a genetically determined metabolic defect results in confluent destruction, or failed development, of central white matter. Most leukodystrophies are autosomal recessive or X-linked recessive with onset in early childhood. Dominantly inherited leukodystrophies with onset in adulthood are rare (http://www.ajnr.org/content/27/4/904.full#xref-ref-1-1).…

    • 708 Words
    • 3 Pages
    Good Essays
  • Good Essays

    The other clinical features that accompany with this syndrome include Cerebrospinal fluid (CSF) protein elevation or cerebellar ataxia, dementia, deafness, proximal myopathy, short stature furthermore endocrine disorders such as diabetes mellitus, thyroid dysfunctions, Addison’s disease and hyperparathyroidism. 4…

    • 510 Words
    • 3 Pages
    Good Essays
  • Satisfactory Essays

    Tay-Sachs Disease

    • 571 Words
    • 3 Pages

    TSD is the result of an autosomal recessive gene, meaning, meaning that two copies of an abnormal gene must be present for the disease to develop. In TSD, the two copies must come from the mother and the father.…

    • 571 Words
    • 3 Pages
    Satisfactory Essays
  • Better Essays

    nvq unit306 dementia

    • 1779 Words
    • 8 Pages

    Picks disease is a rare disorder that causes the frontal/temporal lobes of the brain to slow down, this is a direct result of protein in the affected areas of the brain.…

    • 1779 Words
    • 8 Pages
    Better Essays
  • Powerful Essays

    Ap Bio Diseases Research

    • 2176 Words
    • 9 Pages

    * Inherited disorder in humans where the brain cells of a child with the disease cannot metabolize certain lipids because a crucial enzyme does not working properly.…

    • 2176 Words
    • 9 Pages
    Powerful Essays
  • Satisfactory Essays

    Glycogen Storage Disease type III is an autosomal recessive disorder that is caused by the deficiency of the glycogen debrancher enzyme. This deficiency causes there to be a mutation on exon three and it causes abnormally structured glycogen to be present in the body. This disease can be diagnosed by multiple tolerance tests and it also can be diagnosed by analyzing the muscle tissues. This disease causes problems in the liver and in the muscles. The tolerance tests are used to test for liver diseases and the analysis of the muscles is used in order to determine if a patient has myopathy. This disease affects a large range of ages. This ages can range from early childhood to adulthood usually between ages one and sixty-two. Children and adults usually experience different symptoms. The symptoms in children are most commonly growth and muscle retardation. The symptoms in adults usually vary in comparison to children. Adults usually have myopathy in there calf muscles.…

    • 476 Words
    • 2 Pages
    Satisfactory Essays
  • Good Essays

    Familial Hypercholesterolemia is an inherited genetic disorders which causes the body to be unable to remove and regulate the amounts of low density lipoprotein (LDL). [1] Due to its hereditary source, Familial Hypercholesterolemia usually begins at an early age, causes heart attacks and contributes to the development of Atherosclerosis. The human body regulates concentrations of low density lipoprotein in the body using LDL receptor genes, [2] but missense mutations can sometimes occur in the coding sequences of these receptors, which would result in the formulation of the disorder, Familial Hypercholesterolemia, cardiovascular diseases, and other physical external symptoms on the outside of the body.…

    • 719 Words
    • 3 Pages
    Good Essays
  • Good Essays

    Ehlers Danlos Syndrome (EDS) is a disorder that weakens the connective tissues within the body. Connective tissues support the bones, skin, blood vessels and in turn internal organs are effected. This syndrome can range in severity from mild to life threatening and about 1 in 5,000 people with 10 different types of this genetic disorder are affected worldwide. My interest was struck in this syndrome when I was caring for a patient who was a former nurse who is now severely effected by this disease. There are people that I care for in my nursing career that make an impression on me, this woman was going to have open heart surgery because of this disease. Her positivity was very inspirational this disease will take her life if she does not get surgery. Not only is her vascular system affected she has other symptoms such as her skin and joints. This paper will further explain the genetics related to this syndrome.…

    • 832 Words
    • 4 Pages
    Good Essays
  • Powerful Essays

    Gaucher disease was first recognized by the French doctor Philippe Gaucher, who originally described it in 1882 and lent his name to the condition. It is an autosomal recessive genetic disorder caused by a lack of the enzyme glucocerebrosidase (“NINDS”). When this enzyme is not present, there is an accumulation of lipids in cells and certain organs. This accumulation can lead to further problems such as enlargement of the spleen and liver, painful bone lesions, swelling of lymph nodes, and anemia to name a few. This disorder is most common in the Ashkenazi Jewish population, but can occur in any race (“NINDS”). The genetics of Gaucher disease as well as the symptoms, treatments, and testing will be further discussed in the remainder of this paper.…

    • 927 Words
    • 4 Pages
    Powerful Essays
  • Good Essays

    Maria- Great post. As you state, temperature plays an incredible role in the activity of enzymes in our body. I remember from my biology class last fall; enzymes are imperative in the overall process of functionality in the human body, they are in charge of regulation, and they speed up the biochemical reactions of the body. The human body is incredibly complex. As you mentioned before, Nieman-Pick Disease is an enzyme deficiency disease, and I wanted to elaborate a little more on enzyme deficiency diseases. Have you ever heard of lysosomal storage disease? Lysosomal storage diseases results of enzyme deficiencies. It is an inherited metabolic disease characterized by an abnormal build-up of countless toxic materials in the body's cells (Clarke,…

    • 195 Words
    • 1 Page
    Good Essays
  • Good Essays

    Gaucher's Disease

    • 632 Words
    • 3 Pages

    Gaucher 's Disease is an autosomal metabolic disorder. This means that it is inherited from both parents. For a child to develop the disease both the mother and the father must to carry the necessary gene. If in fact the child inherits the disease he or she will experience problems with the liver, spleen, lungs, bone marrow, and in some cases the brain. The disease is caused by excessive amounts of a fatty substance called glucocerebroside. Glucocerebroside accumulates in the organs when there is a deficiency of the enzyme, glucocerebrosidase. This particular enzyme helps break down glucocerebroside. Therefore, if there is a lack of the enzyme, the lipid begins to accumulate, and results can be fatal.…

    • 632 Words
    • 3 Pages
    Good Essays
  • Good Essays

    Specifically, it is a genetic disease of the immune system and is known as an immunodeficiency disease. The immune system is basically deficient in some way or is missing a key part of it that allows it to function properly. The syndrome affects patients at an early age, sometimes on the very day of their birth even while some experience symptoms after several months. In Omenn syndrome, if left untreated, the disease will eventually cause the death of that patient. Omenn syndrome is a mysterious genetic disease of the immune system characterized by distinctive skin pattern symptoms, debilitating effects on the RAG genes, and an early onset in life. It is a fascinating disease and worth learning more…

    • 991 Words
    • 4 Pages
    Good Essays
  • Good Essays

    apart from the text in boxed inserts and often deal with aspects of pathophysiology. A…

    • 296162 Words
    • 1715 Pages
    Good Essays
  • Good Essays

    Weil's Disease

    • 570 Words
    • 3 Pages

    Some rats are are vicious creatures that carry deadly diseases and can severely harm a human. According to John Davis, “Around 60% of the rodents carry Weil's disease, he added, which causes flu-like symptoms or in more serious cases kidney and heart failure”. Also as claimed Victoria Gill, “A once in a generation, gigantic plague of rats, that ruins crops and leaves people starving”. To add on, rats can be a really insane and cause infestations and why they cause them. Also many people try to terminate the infestations they have to deal with from the rats.…

    • 570 Words
    • 3 Pages
    Good Essays
  • Powerful Essays

    Genes, or the specific order of nucleotides on a segment of DNA that encode the instructions for making proteins, are the basic operative units of heredity (Peault et al. 2007). Throughout the recent years of genomics through the Human Genome Project, researchers have identified all of the genes in the human genome. Located on the chromosomes, genes are the keys to revealing the genotypes and phenotypes of all living things. When they are mutated, inactive, or altered, the encoded proteins cannot continue with their conventional functions, and genetic disorders are often developed (Peault et al. 2007). Current research is underway to determine the functions of these genes. Once…

    • 2451 Words
    • 8 Pages
    Powerful Essays