Werner Syndrome : Disease Overview

1656 WordsDec 1, 20167 Pages
Werner Syndrome Disease Overview Werner Syndrome is a premature aging disorder in which individuals appear much older than their actual age, exhibiting many characteristics of normal aging early on. Those affected develop normally until their adolescence, where many of the symptoms of the disease begin to emerge. It is an autosomal recessive disorder in which a mutation occurs on the Werner Syndrome RecQ Like Helicase (WRN) gene (Online https://rarediseases.org/rare-diseases/werner-syndrome accessed 30 October, 2016). There prevalence of this disease in less than 10/1,000,000, with higher occurrence among the Japanese population with a frequency of 1/50,000 (Ishikawa et al. 2000). The WRN gene is involved in DNA metabolic pathways such as DNA repair and also displays an important interaction with telomeres and the p53 protein. Thus, the mutation for this disorder produces genomic instability (Opresko et al. 2003). Common phenotypic characteristics of Werner Syndrome used to diagnose this disease include short stature with thin limbs, premature senescence, and endocrine disorders. Gene Product and Gene Pathology The 167 kDa WRN gene is located on the short arm of chromosome 8 at position 12 (8p12). It encodes for a protein of 1,432 amino acids which is a member of the RecQ family of DNA helicases (Oshima et al. 2002). The WRN gene provides instructions for the Werner Syndrome ATP-dependent helicase protein (WRN protein), which is involved in the tasks of maintaining and
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