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Cell Organelle Disease Booklet You are probably familiar with many genetic disorders and maybe even the symptoms that people show with these disorders but have you ever thought about how diseases occur at a cellular level? Recall that living things are organized with organ systems made of organs, organs made of tissues, and tissues made of cells, and cells made of organelles. With this in mind then it makes sense that many inherited diseases lead back to malfunctions in the organelles. Also keep in mind that proteins are the building material of living things and proteins are coded by mRNA which is cranscribed from the DNA. Therefore a mutation or change in DNA will lead to a change in a protein which can lead to a change in an organelle that protein is used to build. Your task is to re disease and determine its effect on the organelles in the cell. Each disease affects a specific organelle but this can then have an effect on the other organelles. Be sure to follow the guidelines below for your ipa to include all of the necessary information. Front coer Title of Booklet Your name and period Each additional page (one page per disorder) Description of disease including symptoms/ problems, treatments, and cause ofd Organelle that is affected by the disease Normal job of the organelle Interaction of the organelle with other organelles in a normal cell How the organelle is affected, causes problems and cannot do its normal job How the malfunction of the organelle affects the other organelles in the diseased cell How treatments may help this organelle do its job, (this may involve some speculation on your part) All pages will be graded on the quality of the writing, as well as visuals. This means they should be written in a manner that reflects a high school AP biology student (not copied from the internet) using proper spelling and grammar. Based on the severity of the poor copied writing and the grammar/spelling errors up to 10 points may be lost. There are severe penalties for plagiarism Fach disease is different so dont judge your length of information on another students or diseases length. Be sure to include enough information to allow the reader to understand your disease and the affects is has on the organelle and the cell as a whole. The Centret bagma Tresserigtion the syntneais of athe pratats tus

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Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. The lysosomes are formed by the fusion of transport vesicles budded from the trans Golgi network with endosomes, which contain molecules taken up by endocytosis at the plasma membrane. Each lysosome is surrounded by a membrane that maintains an acidic pH within the interior. They contain hydrolytic enzymes or acid hydrolases that break down macromolecules such as nucleic acids, proteins, and polysaccharides. This is the key organelle involved in digestion and waste removal. The lysosomes contain enzymes that digest excess or worn out organelles, food particles, and engulfed viruses or bacteria. Lysosomal storage disease is an inherited metabolic disorder resulting from the defects in lysosomal function. Lysosomes function with other organelles by fusing with vacuoles to deposit the cells wastes.

Gaucher's disease is a common lysosomal storage disorder (LSD). It causes spleen and liver enlargement, blood problems and bone issues. The signs and symptoms include:
(1) Reduced hemoglobin causing anemia and fatigue
(2) reduced platelet count resulting in bleeding and bruising
(3) reduced lung function causing shortness of breath
(4) enlargement of liver and spleen which results in abdominal discomfort
(5) reduced bone density leading to bone pain and fractures.

Prevention
There is currently no known method of prevention for Gaucher's disease. If a person has a family history of Gaucher disease, genetic testing may be performed to determine if he/she carries the mutated gene. Although carriers do not have the disease, they can pass a copy of their mutated gene onto each of their children.

Treatment:
Gaucher's disease may be treated using enzyme replacement therapy with glucocerebrosidase enzyme. Bone marrow transplants may be useful for treating serious cases of Gaucher disease. A drug namely miglustat may be useful for inhibiting the body's ability to produce glucocerebrosides which results in limiting the buildup of glucocerebrosides in bodily tissues.

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