Mutation: Werner Syndrome For the most part, aging is an enviable part of the life cycle, often involving progressive change in physical, cognitive, and psychological aspects. However, individuals diagnosed with Werner syndrome face a heightened biological clock, so to speak. According to Pierce (2013), Werner syndrome is an autosomal recessive disease associated with premature aging and premature death. This rare hereditary disease was discovered by German scientist Otto Werner and affects approximately 1:200,000 births (Kuan, 2016). Werner syndrome will be examined below, including associated symptoms, the specific mutation, the discovery of the disease, the impact of the mutation, and the potential for genetic technology. Symptoms While syndromeThis specific gene encodes RecQ helicase enzymes and is responsible for effective telomere replication, cell division, DNA maintenance and repair (Kuan, 2016). To simplify, individuals with Werner syndrome suffer from a defective helicase (Pierce, 2016). The impact of this flaw will be discussed later in the reading. DiscoveryThe relationship between the mutation and Werner syndrome can be described as a direct correlation. Pierce (2013), describes the helicase enzyme RecQ as responsible for telomere replication; in Werner syndrome, this enzyme is defective and leads to a shortening of telomeres. Studies have shown that telomeres shorten each time a cell divides, and shortened telomeres have been associated with aging (Pierce, 2013). Impact The impact of the mutation has different effects than those of normal events. The WRN gene provides instructions for the production of the Werner protein that assists in DNA replication; the mutations lead to a defective protein that fails to interact with DNA (U.S. Department of Health and Human Services, 2016). Normal DNA replication would result in an unaltered Werner. With increasing scientific and technological advances being discovered every day, we can conclude that genetic engineering technology could potentially provide early diagnosis and ultimately treatment of Werner syndrome. According to the Salk Institute for Biological Studies (2015), scientists believe they have discovered the gene responsible for aging and hope to reverse the disease using the insertion of human stem cells with deletion of the mutated gene or using a method currently under development of development by modifying the alteration in hopes of reversing human aging and disease (Salk Institute for Biological Studies,
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