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Created with Fabric.js 1.4.5 What is Ataxia Telangiectasia (AT)? Loss of territories - productive land,industries and raw resources Ataxia Telangiectasia 35% Ataxia Telangiectasia (AT), also known as Louis-Bar syndrome, is a primary immunodeficiency disease that impairs several different parts of the brain including the cerebellum, which causes difficulty with movement, balance, and coordination. It is a very rare disease in the recessive gene that affects 1 in 40,000 to 100,000 people in the United States. To put this into perspective, it affects approximately 5,000 people in the United States out of the vast population of 316.1 million. Of children who have AT generally develop a form of cancer, most commonly acute lymphocytic leukemia or lymphoma. Causes Symptoms - Inherited (passed down)- Both parents must have the defective trait- Defect occurs in the recessive allele- All AT victims are homozygous recessive - Decreased coordination- Mental development slows/stops after ages 10 to 12- Discoloration of skin in areas exposed to sunlight- Jerk or abnormal eye movements- Seizures- Severe recurring respiratory infections Cell Signaling Pathway Gene Mutation Ataxia Telangiectasia mutated, more commonly known as ATM, is a type of protein kinase that serves its main purpose during DNA double-strand breaks, acting like a sensor protein. It phosphorylates several other proteins that initiate activation of the DNA damage checkpoint, leading to apoptosis, cell cycle arrest or DNA repair, which is the correct mechanism. ATM is one of the most important proteins in the cell when it comes to DNA repair, and when the gene is mutated like it is in Ataxia Telangiectasia patients, many problems arise. It serves a wide range of purposes, including DNA repair, apoptosis, G1/S, intra-S checkpoint and G2/M checkpoints, gene regulation, translation initiation, and telomere maintenance. When ATM is mutated, the faulty mechanism comes into play. In AT patients, their ATM gene has a mutation which means that the ATMs ability to repair DNA and do all of these other tasks is greatly affected, causing it to improperly repair the DNA. Improper repair of DNA can lead to a number of problems, including cancer (leukemia). Many other problems can arise due to ATM defects, including certain kinds of leukemia and lymphomas, Mantle cell lymphoma, T-ALL, atypical B cell chronic lymphocytic leukemia, T-PLL, as well as an increased risk of breast cancer. The latest AT research is showing that there is a defect in the Radiation Signal Transduction in AT patients, causing the cells in these patients to ignore the checkpoints that control post irradiation. Due to the tumor suppressor gene, cells in the cell cycle normally have a delay when going from the G1 phase to the S phase, but patients with AT go directly from the G1 to the S phase, increasing the likelihood of mutations, chromosomal fragmentation, and genetic instability. By: Nathan Hodgson Normal DNA Repair DNA Repair with Mutated ATM
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