blog




  • Essay / Werner Syndrome Case Study - 784

    Mutation: Werner Syndrome For most, aging is an enviable part of the life cycle, which often involves a gradual change in physical, cognitive and psychological aspects. However, people diagnosed with Werner syndrome experience an accelerated biological clock, so to speak. According to Pierce (2013), Werner syndrome is an autosomal recessive disorder associated with premature aging and early death. This rare hereditary disease was discovered by German scientist Otto Werner and affects approximately 1 in 200,000 births (Kuan, 2016). The following will review Werner syndrome, including the accompanying symptoms, the specific mutation, the discovery of the disease, the impact of the mutation, and the potential of genetic technology. Symptoms While the syndromeThis specific gene encodes RecQ helicase enzymes and is responsible for efficient telomere replication, cell division, DNA maintenance and repair (Kuan, 2016). Simply put, people with Werner syndrome suffer from a defective helicase (Pierce, 2016). The impact of this defect 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 being responsible for telomere replication; in Werner syndrome, this enzyme is defective and leads to shortening of telomeres. Studies have shown that telomeres shorten each time a cell divides, and shortened telomeres are associated with aging (Pierce, 2013). Impact The impact of the mutation has varied effects compared to that of normal events. The WRN gene provides instructions for the production of the Werner protein which facilitates DNA replication; 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 intact Werner. With increasing scientific and technological advances being discovered every day, we can conclude that genetic engineering technology could potentially enable early detection and possibly 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 either the insertion of human stem cells with deletion of the mutated gene or by using an in-growth method. course. modify modification in hopes of reversing human aging as well as disease (Salk Institute for Biological Studies,