Mariana Monroy Erika Chacón

1. Werner Syndrome
Mariana Monroy
Erika Chacón

2. DEFINITION
• Werner syndrome, also known as “adult progeria” is a
rare, autosomal recessive* progeroid syndrome (PS), which is
characterized by the appearance of premature aging.
*Used to describe a characteristic or condition that appears only in individuals who have received two copies of a gene mutation, one copy from each parent.
Otto Werner

3. SYMPTOMS
Growth retardation
Premature graying hair
Wrinkling
Abnormal fat deposition (thin legs and arms)
Skin atrophy
Skin ulceration (also on achilles tendon and malleoli)
Atrophy of gonads (Infertility)

4. AFFECTION
Arteriosclerosis
Calcinosis
Atherosclerosis
Diabetes Mellitus
Telangiectasia
Malignancies

5. GENETICAL EXPLANATION
• The WRNp protein have been shown to be associated with RAD52 (a
recombination mediator protein), the Ku complex, components of the
DNA replication complex (DNA polymerase, human replication protein
A, proliferating cell nuclear antigen and topoisomerase I), p53, and
TRF2 (a telomeric repeat binding factor).

6. TREATMENT
• Vitamin C in a genetically modified mouse model of the disease.
Vitamin C supplementation also appeared to normalize several age-
related molecular markers such as the increased levels of the
transcription factor NF-KB. Vitamin C decreases activity of genes
activated in human Werner syndrome, and increases gene activity
involved in tissue repair.
BUT:
• Like all progeria, there is no cure for Werner’s syndrome. Patients are
treated in accordance with individual case symptoms, and with an eye
towards increasing lifespan and quality of life by mitigating several of
the risk factors involved in a Werner Syndrome diagnosis.

7. Gracias.