What is Werner syndrome?
Werner syndrome is a rare, inherited disorder, marked by rapid aging. It begins in early adolescence or young adulthood. lt is also called adult progeria and WS.
Werner syndrome is characterized by the rapid appearance of features associated with normal aging. People with this disorder typically grow normally until puberty. The signs associated with dramatic aging typically begin to develop when they are in their twenties.
Signs and symptoms
Signs and symptoms associated with Werner syndrome include:
- Shorter-than-average height
- Thinning, graying and loss of hair
- Hoarse voice
- Thin, hardened skin
- Thin arms and legs and a thick trunk
- Unusual facial features
Health complications
As Werner syndrome progresses, individuals may develop health complications associated with aging early in life.
This includes cataracts, skin ulcers, severe hardening of the arteries, diabetes, osteoporosis (thinning of the bones), and fertility problems. People with Werner syndrome have an increased risk of cancer – especially thyroid cancer, skin cancer, and sarcoma (a type of bone or soft tissue cancer).
Individuals having Werner syndrome usually live into their late forties or early fifties. The most common causes of death include cancer and atherosclerosis.
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Is it inheritable?
Werner syndrome is inherited in an autosomal recessive pattern. This means both copies of the WRN gene in each cell have mutations.
The WRN gene provides instructions for producing the Werner protein. This protein helps in performance of several tasks related to the maintenance and repair of DNA.
What causes Werner syndrome
Scientists are not exactly sure of how these WRN mutations cause the symptoms of Werner syndrome. It is believed cells with an altered Werner protein may divide more slowly or stop dividing earlier than normal. This may lead to growth problems.
The altered protein may allow DNA damage to accumulate, which could impair normal cell activities and lead to the health problems associated with this condition.
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Is there any treatment?
There is no proper cure for Werner syndrome, however treatment involves a multidisciplinary team.
Cataracts can be treated with surgery. Physical examinations can help check for skin ulcers, diabetes, malignancies or cardiovascular disease. Malignancies may be treated with surgery, chemotherapy and/or radiation.
It is also advised to avoid smoking and lead a healthy lifestyle – including regular exercise and a diet low in fat. Psychological counseling can also help in providing support to patients suffering from Werner syndrome, as well as their family members.
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