Werner Syndrome

By: Cory Ramundo

History of the Disease
● Werner syndrome is named after German scientist Otto Werner.
○ He first noticed rapid aging at a young age in 1904 in four kids who were all related.
● However, his research went unnoticed until 1934 where Oppenheimer and Kugel named this disease
Werner Syndrome, which sparked a great deal of interest.
● Agatston and Gartner, two respected scientists hypothesized a link with Werner Syndrome and cancer.
● This was debunked in 1966, when scientists discovered that Werner's Syndrome was inherited through
autosomal recessive
● Lastly, in 1981 geneticists discovered the syndrome to derive from the WRN gene in chromosome 8
● It was the cloned in 1996 where geneticists discovered that it was created from DNA helicases
Symptoms of the Disease
● Werner's syndrome is a disorder that leads to rapid aging after puberty. In their twenties, people
with this syndrome begin to grey, lose hair, develop a great deal of wrinkles, and begin to
become skinny and weak.
● They are generally very short and develop fatal illnesses such as cataracts, diabetes,
atherosclerosis, osteoporosis, and forms of cancer.
● People with the syndrome usually die in their late forties to early fifties
Cause of the Disease
Effects:
WRN Gene:
● The disease occurs due to a genetic mutation
on the WRN gene, which effects the Werner
protein
● The Werner protein is responsible for
maintenance and repairing DNA and
preparing DNA for cell division.
● Therefore, mutation on the WRN gene create
a nonfunctional Werner protein, and is
therefore not sent to the nucleus where the
Werner protein usually goes to interact with
DNA.
● Thus, cell division takes longer and cells stop
dividing much earlier. Also DNA damage can
accumulate, which causes many health
problems to form along with rapid aging.
Treatments for the Disease
No Direct Treatment

However, there are treatments for certain symptoms of Werner Syndrome

● Cattracks can be removed surgically and putting back a subsitutive lens

● Diabetes mellitus can be cured with dietary changes and media that decreases glucose levels.
● Arteriosclerosis and cardiovascular abnormalities can be treated with medicine that minimizes chest
pains because of lower oxygen levels.
● Benign or malignant tumors can be treated with surgery, chemotherapy, radiation therapy, and other
types of therapies.
● Osteoporosis can be treated with strontium and a specific diet and workout plan.
Identification of the disease
Werner's Syndrome is inherited through autosomal recessive, meaning it only shows
when someone had two recessive alleles for the trait.

Examples
● If someone only has one recessive allele, then he or she becomes a carrier, and does not experience
symptoms, but can still pass it on.
● Example: If both parents were carriers of the disease, then it is a 25% chance their kids will show
symptoms, 25% chance the children will not show symptoms or carry the gene, and a 50% chance the kids
will not show symptoms, but will still be carriers.
● Therefore if one of your parents has the disease or if both our carriers, one could be at risk of having
Werner's Syndrome and might want to get a genetic test during pregnancy
Spreadsheet

https://docs.google.com/spreadsheets/d/1_ljuKHem7KJRJAF8A7yWznlLIgd_0Yl4KkmpM-
7Nazk/edit?usp=drive_web&ouid=111425730025285181150
Bioethical Considerations
The disease can also be identified through genetic testing, which allows doctors to check the WRN gene to see
if someone will have the syndrome.

● Undesired Result
○ This can be extremely unethical, because some people believe that killing a baby because he or
she has this syndrome is unethical and unfair to do. This information was received from genetic
testing, which could be unethical.
● Limitations
○ It can be hard to tell sometimes whether or not they will be carriers or show symptoms of the
disease or how prominent it will be. This can lead to difficult decisions even though the baby
might not show the syndrome, but only carry it.
● Possible Persecution based on Genetics
○ Some companies are considering forcing employers to submit to genetic testings, and using
these tests to decide whether or not or hire someone
Citations
“Werner Syndrome - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health,
ghr.nlm.nih.gov/condition/werner-syndrome#genes.

Medscape Log In, www.medscape.com/viewarticle/505222_4.

“Werner Syndrome.” NORD (National Organization for Rare Disorders), rarediseases.org/rare-diseases/werner-

syndrome/.

“Invitae Werner Syndrome Test.” Test | Invitae Werner Syndrome Test,

www.invitae.com/en/physician/tests/01741/?cat=CAT000015.

“Werner Syndrome.” Cancer.Net, 13 Apr. 2017, www.cancer.net/cancer-types/werner-syndrome.