Gaucher Disease

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Gaucher disease (GD) is an inherited gene that stops glucocerebroside (type of lipid) to be broken down correctly. When this lipid cannot be broken down, buildups appear in the liver, spleen, and bone marrow which affects normal functioning. These organs begin to grow to an irregular size, amenia becomes present within the patient, and easy bruising appears due to the decrease in blood platelets. Gaucher disease is created during an autosomal recessive pattern, which means that two genes have a mutation, which causes the disorder. Normally, if a child is born with this disease, both parents carry one copy of the mutated gene. The gene that the mutation appears in is the GBA gene. GBA is located in chromosome one. The GBA gene is in charge of creating the instructions for producing an enzyme called beta-glucocerebrosidase. This enzyme breaks down the glucocerebroside into glucose and ceramide (a simpler fat molecule). When mutations appear in the GBA gene, the activity of the beta-glucocerebrosidase is reduced abundantly. Without this important breaking down of the…show more content…
They are working to uncover the spectrum of symptoms related to Gaucher disease. They have studied into the history of GD, where they found most of their answers. They have found a link between glucocerebrosidase and parkinsonism. They have discovered that the mutation in the GBA gene is the most common genetic risk factor for developing the other disorder, parkinsonism. This led them to believe that if they can stop the mutation in the gene, or find a way to silence it, that both these disorders can be cured. Scientists that have researched this disease believe that restricting people from getting married that carry the gene is unnecessary and everyone can risk the chance if they want to. Therefore, the bioethical implications of eugenics is not needed for this
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