Werner Syndrome

By Sarah Goodell
 ● 1904, Otto Werner first observed the
History of the syndrome in a family of a six
Disease ○ All four children showed
characteristics of Werner’s at
same age
■ Most notably cataracts
(clouding of eye lens)
○ Assumed disease was genetic
● 1941, scientists Oppenheimer & Kugel
coined the term “Werner’s Syndrome”
○ Research began & Agatston &
Gartner considered that disease
was linked to cancer
History of the ● 1966, general consensus that disease
was inherited & was autosomal
Disease recessive
● 1981, geneticists had located WRN
gene on chromosome 8
○ Led to its cloning in 1996
WS CASES:
■ Revealed WRN protein made
from DNA helicases
● Most cases of Werner Syndrome in
Japan & Sardinia, Italy
○ Founder effect in Sardinia bc of
small population
● Only 1 out of 200,000 affected in US
 ● Symptoms:
Symptoms of the ○ Rapid aging
○ Cataracts in both eyes
Disease ○ Skin changes
■ Wrinkling
■ Dryness & thinning
■ Bruising
■ Loss of muscle tone
○ Short stature
○ Early graying or thinning of hair
○ Flat feet & thin limbs
○ Hoarse or high-pitched voice
○ Bone & tissue changes
○ Cancers
○ Diabetes
Cause of the ● Mutation on the WRN gene
○ WRN gene is autosomal
Disease recessive
■ Must inherit a copy from
each parent to have disease
○ WRN gene located on
chromosome 8
● Loss of function of DNA Helicase
(Werner Protein)
○ DNA Helicase = enzyme involved
in DNA repair & recombination
■ Werner Syndrome results
from failure in these
processes
Treatments for the
Disease ● No cure, but can have procedures
done to treat symptoms:
○ Removal of cataracts
○ Vitamin C supplementation
○ Treatment of...(if necessary)
■ Heart disease
■ Cancers
■ Diabetes
● Typically die around ages 40-50

Age 37
Identification of the
● Although a very rare disease, can
Disease get a genetic testing of the WRN
gene at any time for early
detection
○ At-risk relatives can be
identified
● Typically diagnosed after age 10
● Symptoms usually appear later in
life
○ Fully present around ages 20-
30
 Bioethical
● Treatment for possible cataracts
Considerations ○ Removal of cloudy lens inside
eye
■ Replaced with an
artificial lens
● Unnatural solution
● Otherwise, no other bioethical
considerations
○ No cure & very little treatment
possible
 WS Affects 1 in 200,000 people in US.

1/200,000 = 0.000005

Calculations WS is autosomal recessive, so

p = 0.999995

q = 0.000005

q represents the frequency of those living in

the US with WS.
Spreadsheet (G1)

https://docs.google.com/spreadsheets/d/1CiJ8DBIO
dqXwaPMIyPGOTA8it-KnX-EsMRWRC-
BBP9M/edit?usp=sharing
Spreadsheet (G2)

https://docs.google.com/spreadsheets/d/1CiJ8DBIO
dqXwaPMIyPGOTA8it-KnX-EsMRWRC-
BBP9M/edit?usp=sharing
 https://ghr.nlm.nih.gov/condition/werner-syndrome#

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

http://www.wernersyndrome.org/registry/faq.html

Works Cited
https://emedicine.medscape.com/article/1114125-
overview

https://www.ncbi.nlm.nih.gov/books/NBK1514/

https://ommbid.mhmedical.com/content.aspx?bookid
=971&sectionid=62666273

https://www.scientificamerican.com/article/what-do-
we-know-about-the-1999-10-21/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3760
297/