Ataxia Telangiectasia Research Paper

How are you? I heard you have been spending a lot of time with the boys recently! With Adam’s sixth birthday approaching, my appreciation for doctors continues to grow. Years ago we were uncertain of Adam’s ability to refrain from humming during uncomfortable situations; yet, today, we are amazed by the strides he’s taken with neurologists at his side. Neurologists help children struggling with rare diseases all over the world. Just the other day, an article was released highlighting a 10-year boy, wheel chair bound, displaying symptoms of multiple muscle and immune system deterioration disorders. The boy’s photo made me ponder Adam’s chances for developing this disease. The disease is called Ataxia Telangiectasia. It is an autosomal recessive disorder; which means, both parents must be an A-T carrier for their child to exhibit the phenotype. A-T affects the nervous system and immune system. The first identifiable symptom of A-T is “incoordination, called Ataxia,” (1). This appears between 1 and 4 years old. The next expected symptom is “dilated blood vessels in their eyes, called Oculocutaneous Telangiectasia,” (1). The symptoms progress to the Cerebellum to cause slurred speech and difficulty moving their eyes. By
This “specific gene is a protein kinase that is triggered after double strand breaks,” (1). It is responsible for activating the DNA damage checkpoints which lead to cell cycle arrest. This usually kills the cell. When it is mutated, chromosome break, telomeres shrink, or cells die. Translocation from chromosome seven to fourteen is common as well. Cells are extremely sensitive to radiation exposure because DNA repair between G1 and S phase does not work properly. It took researchers twenty years to identify the single gene responsible for causing many diseases. Now that the ATM gene is identified, the next step would be to identify the source of communication that initiates the endless