Question

Write 75- to 100-word paragraph that summarizes the symptoms and pathology of the disease Werner Syndrome? (premature aging). Your paragraph should include the information listed below, as well as other interesting, relevant information.

Information should include:

o What are the characteristic manifestations and complications of the disease?

o What is the mode of inheritance? What is its penetrance and expressivity?

o What is the main type (responsible for the majority of cases) of mutation involved? What gene is mutated?

o By what molecular/cellular mechanisms does this mutation cause the disease? o   Why is your topic important and/or interesting?

Answer 1

Werner syndrome is the accelarated appearance of characterstics that are associated with normal aging. Individuals with this syndrome do not exhbit any symptoms up untill puberty. They however, do not exhibit the normal growth spurt usually accompanying puberty, resulting in short stature. The symptoms include hoarseness of voice, graying and loss of hair, thin and hardened skin. They also have thin arms and legs.

Werner syndrome affects 1 in 200,000 individuals in the United States. It is found more in Japan, with frequncy of 1 in 20,000 to 1 in 40,000 people. Werner syndrome is inherited in an autosomal recessive pattern

Werner syndromes is usually caused by mutations in the WRN gene, which is responsible for the production of werner protein.This proteins plays a main role in the maintainance and repair of DNA.

Mutations in this gene lead to production of short and truncated werner protein, which does not get transported to the cell's nucleus to interact with the DNA. Its half life is shorter than the normal protein. Altered protein structure therefore leads to mutations in DNA, due to faults in DNA repair machinery.