Werner+Syndrome

=Description= toc Werner Syndrome is a rare autosomal recessive progeroid syndrome. The disorder was first observed in four siblings by German scientist, Otto Werner in the early 1900s. It is found in less than 1 in 100,000 births, although diagnosis is not possible soon after birth. The youngest diagnosed patient was six years old, while the median age of diagnosis is twenty-two.

=Diagnosis & Symptoms=

Diagnosis
Patients receive a mutation in the //WRN// gene (within chromosome 8) by receiving a copy from both parents. Even though both parents must have a mutation in the WRN gene, they are not sufferers of WS. This is explained in the chart below. This makes the syndrome autosomal and recessive. The tell-tale signs of Werner's are premature aging (usually in in late teens/early twenties), tight skin, high pitched or abnormal voice and sharp facial features. Patients also typically have a beaked nose, decreased fertility, and lack or "miss" their adolescent growth spurt.

Symptoms
On top of the symptoms observed during diagnosis, patients often suffer a short stature and small build due to the overall lack of growth. The earliest observable symptom is greying hair and wrinkling skin at a very early age. Other skin diseases/disorders associated with WS include shiny, hard, or seemingly thin skin. Patients with WS also do not rebuild dermal and epidermal tissue very well, which causes lesions and ulcers of the skin. Another "unique" symptom of WS is the extremely early development of cataracts, which is associated with the premature aging aspect of the disorder. = = =On a Molecular Level= Unlike other metabolic disorders caused by genetic mutations, WS is only associated with mutations found in the WRN gene. The WRN gene, which is found in chromosome 8, encodes a 1432 amino acid protein that helps with DNA repair during double strand breaks. A double strand break is a form of DNA damage where both strands of DNA are broken. The protein produced by WRN is present in the RecQ helicase, which is responsible for controlling and repairing these types of damages in DNA. So, when a mutation is present in the WRN and the protein needed is not being produced, the DNA can not be repaired if damaged. Thus, Werner's Syndrome can occur. There are 35 known mutations that can occur in the WRN gene. Causes of the mutation include stop codons, deletions, and insertions. These result in a frameshift mutation.

=Video Fact Recap= media type="youtube" key="5nNZoVlNI9w" width="560" height="315"

=References= []

[]

[]

[]

[]