Werner Syndrome – Causes, Symptoms and Treatments!
Werner Syndrome – Causes, Symptoms and Treatments that we should all be aware of. In addition, Werner syndrome (WS) is also called progeria absoluta, adult progeria, and pangeria.
It is the rapid and dramatic hereditary appearance of the signs of premature aging , predisposing a person to an increased risk of cancer and other diseases. Werner ‘s syndrome is the most common condition among disorders of the aging process and is considered to represent the symptoms of normal human aging.
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The assessment findings show changes when individuals reach the puberty stage of their lives. Studies have reported that teenagers dealing with this problem have a short stature as they don’t have this growth spurt in them. The hallmarks of Werner syndrome are visible in the early twenties by gray coloration and hair loss, developing a hoarse voice, and having hardened skin.
Main Symptoms of Werner Syndrome: Patients with Werner syndrome are generally short due to the absence of the adolescent growth spurt. They also have decreased fertility.
The symptoms of Werner syndrome become evident among those belonging to the late teen and early twenties group and progress continuously. Most of them live to be 50 years old. The most common causes of death are associated with some diseases and complications, such as atherosclerosis and cancer.
- Premature Closure of Hair Loss: This is the most common manifestation and hair loss is usually noticed as occurring first on the person’s scalp, then going to the eyebrows.
- Presence of Bilateral Cataracts: These types of cataracts are very different from normal aging as they are associated with problems in the lens of the posterior cortex and subscapular regions. Cataract surgery is needed to restore normal vision.
- Arthropod or Tight Skin: The skin may appear shiny and tight and also be thin or hardened due to an atrophy in the subcutaneous tissue and with dermal fibrosis. Some other signs include skin ulcers that are difficult to manage and these are in part due to the lower replication potential of the skin cells.
- Soft tissue calcification
- sharp facial features
- abnormal high voice
Main Causes of Werner Syndrome: Werner syndrome isknown to be autosomal and recessive which can be passed from one generation to another within a family by copying one of the genes from each parent.
Mutations that occur in the WRN gene can lead to Werner syndrome . This WRN gene provides instructions in the manufacture of the Werner protein to perform various tasks related to the maintenance and repair of DNA structure.
The mutations that have occurred in the gene result in the production of an abnormally short Werner protein that is not functional. Cells with an altered WRN protein are dividing very slowly and may even stop dividing at an earlier than normal stage, which could be the ultimate reason for the individual’s stunted growth.
Werner Syndrome Facts: Werner syndrome is considered to bea very rare condition. It is inherited through an autosomal recessive trait. The parents of individuals diagnosed to have Werner syndrome are carrying one of each of the mutated genes. The incidence rate in the world is between 1: 1,000,000 and 1: 10,000,000; Except for Japan where it is at a rate of 1:100,000 populations.
The diseases associated with Werner syndrome are as follows:
Patients with Werner syndrome are also at risk for the following types of cancer:
- malignant melanoma
- Soft tissue sarcomas
- thyroid cancer
- liver cancer
Treatment of Werner Syndrome: A cure for Werner syndrome has not been discovered. Treatment is provided to patients by managing existing illnesses and relieving symptoms with the aim of improving quality of life.
Topical treatments can be used for smaller skin ulcers, but they are not effective in controlling other new ulcers. Surgery may be necessary in severe cases to implant a skin graft or amputate a limb when required in any situation.
Diseases associated with Werner’s syndrome , such as diabetes mellitus and cancers, are managed in a similar approach, as specialists do with normal individuals. Diet modification and some recommended forms of exercise can help prevent and control atherosclerosis. Patients are encouraged to undergo regular screening tests for cancer.
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Vitamin C supplementation has been observed to reverse premature aging and various tissue dysfunctions. It appears to normalize several age-related molecular markers. With some experimentation done in mice through a study, this Vitamin C is suspected to be beneficial in the treatment of human Werner syndrome .