Progeria: Werner’s Syndrome

Progeria is a type of genetic disorder where aging is rapid and premature. There are different genetic disorders with this condition. All of them reflect rapid premature aging in victims. Collectively, they are called progeroid syndromes. But they are treated and considered as clinically unique from one another.

Clinical diagnosis of the patients shows that they appear old for their natural age. For now, there is no known treatment or prevention for this condition. However, for the treatment of their many diseases associated with old age, they are treated the same way people with these problems are treated.

Werner’s Syndrome

Werner’s syndrome was named after Otto Werner. He was a German scientist who described the syndrome in 1904 in his doctoral thesis.

Werner’s syndrome is also known as adult progeria. This is one of the most common progeria cases. It is a less known form of progeria but more common than Hutchinson - Gilford syndrome. It is estimated that this condition occurs in about 1 in 1 million births. To date, there are about 1300 recorded cases about this syndrome since Otto Werner first described it in 1904.

This condition closely mimics the natural aging process. However, during early adulthood, aging becomes more rapid, resulting in premature aging. First sign of this disease is the lack of growth spurts during teenage years. Aside from that, though, teenagers with this condition look normal. Aged appearance begins in their 20s or may be delayed up to their 30s. The most common causes of death are cancer or heart attacks and stroke (atherosclerosis).

Mutation of WRN gene is known to be responsible for this disorder. This protein, when normal, is thought to be responsible for the repair and maintenance of DNA. Because of the abnormal function of this gene, it fails to repair and maintain DNA causing DNA damage accumulation. This gene is hereditary. Chances of having this disease increase if a sibling or parent has this condition or are carriers of this gene. No need to worry for most people, though. This is a rare condition.

Because WS patients have a longer lifespan than other progeroid syndromes, it is recommended for them to have a healthy lifestyle to delay its symptoms. Exercise, healthy diet, and avoidance of cigarettes and alcohol are necessary to avoid the complications associated with WS. Death can occur between 30 to 50 years old.

This condition is more common among the Japanese than any other ethnic background. Out of the 1300 reported cases, 800+ of them are of Japanese descents.

WS generally has these symptoms and complications

1. Muscle deterioration
2. Thin skin
3. Short in stature
4. Wrinkling and aging of the face
5. Loss of subcutaneous fats
6. Sunken cheeks due to fat loss
7. High pitched voice or coarse voice

Health Related Problems

1. Rapidly progressing cataracts
2. Osteoporosis
3. Diabetes
4. Premature menopause for women
5. Atherosclerosis (hardening of the arteries)
6. Cancer
7. Cataracts
8. Skin ulcers
9. Rapid decline of fertility