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Chromosome 6

Chromosome 6. Kamil Moroz Ms. Traniello Biology H 2/13/12. Early Onset Parkinson’s Disease.

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Chromosome 6

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  1. Chromosome 6 KamilMoroz Ms. Traniello Biology H 2/13/12

  2. Early Onset Parkinson’s Disease The PARK2 gene is located on q26 of Chromosome 6 and it encodes the Parkin protein. Though the primary function of this protein is unknown, it is a part of the ubiquitin-proteasome system which helps locate proteins for degradation, or their breaking down of. A mutation in the Parkin Protein is one of the most common genetic causes of autosomal recessive juvenile Parkinson disease.

  3. What is Parkinson’s Disease? Parkinson’s Disease is caused by the death of Dopamine-Creating cells in a region of the midbrain. The cause of death of these cells is unknown but has been linked to the PARK2 gene on Chromosome 6 and 17. It degenerates the central nervous system causing issues in walking, standing straight, and in some circumstances, sleep and sensory issues. Parkinson’s Disease is more common in the elderly and is often portrayed with a senior citizen with the disease. The disease causes rigid movement and a slower gait while also shaking a lot. Your also have a less stable walk and stand in which falls can occur in a potentially weekly basis leading to bone fracture.

  4. AnkylosingSpondylitis The HLA-B gene is located in p21.3 on the short arm of Chromosome 6 and is a critical part of the immune system. The HLA-B gene provides instructions for the body to distinguish between proteins from foreign environments and proteins that the body has created itself. Scientists do not know how this gene specifically can cause AnkylosingSpondylitis, or Bekhterev’s Disease, but many theorize that it incorrectly displays peptides that trigger arthritis or that the cell folded improperly. It mainly focuses on the axial skeleton, shown on the right.

  5. What is Bekhterev’s Disease? Bekhterev’s Disease or AnkylosingSpondylitis causes a fusion of the spin and a condition known as “Bamboo Spine”. The fusion happens at the vertebrae and stiffens them incredibly. This stiffness causes a downward curvature of the spine and in very severe cases can permanently leave your head at a downwards angle. As shown in the picture below, over the years your spine fuses more at the vertebrae and looks like a de-evolution of the human’s stance compared to an ape’s.

  6. Hemochromatosis The HFE (human hemochromatosis protein) protein which is encoded by the HFE gene located on p21.3 of the Sixth Chromosome in the human body. This protein regulates iron consumption in the body. However, not all cases of iron overload have irregular HFE genes. Hepcidin may also be another cause for hemochromatosis.

  7. What is Hemochromatosis Type 1? When the HFE gene is mutated, the body believes that it is always having an iron deficiency and that results in excess amount of iron being absorbed into the body through the bloodstream. In the image on the left, Iron in the blood has been dyed to track the amount of iron in the cells. The blue blobs are coloured iron while the surrounding pink does not have such a huge excess of iron. Because of the increase in technology over the years, popular symptoms usually associated with Hemochromatosis such as the changing of skin colour does not happen because we can diagnosis the disease earlier. Most patients of Hemochromatosis Type 1, or the hereditary version of Hemochromatosis, do not show any major symptoms. Some symptoms are fatigue, malaise, insulin resistance, and arthritis of the hand, knee, and shoulder joints.

  8. Coeliac Disease HLA-DQA and HLA-DQB are both located in area p21.3 on the sixth chromosome and they encode the protein which is an antigen presenting cell. These cells process antigens and present them to the T-cells.

  9. What is Coeliac Disease? • Coeliac Disease causes a shrinkage or cutting of the villi lining in the small intestine. This causes an interference with absorbing nutrients and ultimately growth and survival problems. The disease also causes this reaction to wheat proteins but it is not the same as a wheat allergy and the only real treatment is a gluten-free diet. • Severe cases of Coeliac Disease cause pale and greasy stool, issues with weight like weight loss or gaining weight, and issues with surviving if you are an infant.

  10. Diabetes Mellitus Type 1 • Mutations on the HLA-DR, HLA-DQ1, and HLA-DQ2 genes can cause type 1 Diabetes. These genes are all located on p21.3 of the sixth chromosome. These genes relate to the autoimmune system and it is unsure how the mutated genes can cause Diabetes.

  11. What is Diabetes? Diabetes is a disease of the autoimmune system in which insulin-producing beta cells in the pancreas are destroyed through autoimmune processes. The chance of getting Type 1 Diabetes from your father or mother is 10% from the father while 4% or lower from the mother. Diabetes is fatal unless treated through an intake of insulin. Insulin causes cells to take glucose from the blood and store it as glycogen. With low amounts of insulin you can suffer from hyperglycemia which often results in death as well. The low amount of insulin in the body causes patients with the disease to need to watch their blood sugar levels constantly.

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