darolburdge SC435 unit 7 assignment - Unit 7 Paper 1 Darol...

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Unit 7 Paper 1Darol BurdgeKaplan UniversityProgeriaSC4357/4/2016
Unit 7 Paper 2Introduction and DNA StructureHutchinson-Gilford progeria is a very rare genetic disease of childhood that is characterized by dramatic premature aging. It is estimated to affect 1 in every 20 million people. Currently it is estimated that 350 to 400 children throughout the world are living with progeria (National Institute of Health, 03/2013). Throughout this paper we will be looking at the cause of the disease, its’ symptoms, the impact it has on DNA replication and on transcription and translation. We will also look into possible ways that genetic engineering may be able to help us learn more about the disease.In progeria a very small point mutation occurs in one single gene. This gene is known as lamin A (LMNA). The LMNA gene codes for two proteins, lamin A and lamin C. These proteins play a key role in stabilizing the inner membrane of the cell's nucleus. In laboratory tests involving cells taken from progeria patients, researchers have found that the mutation responsible for progeria causes the LMNA gene to produce an abnormal form of the lamin A protein which is called progerin. The lamin A protein provides the structural scaffolding to the nucleus of the cell. The abnormal protein (progerin) appears to destabilize the cell's nuclear membrane in a way that may be particularly harmful to tissues within the cardiovascular and musculoskeletal systems. The buildup of progerin within the nucleus also seems to have damaging affects during the process of DNA replication. Normally in DNA replication helicase unwinds DNA for replication at a site known as a replication fork. Once the strands are separated

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