Werner Syndrome
What is Werner Syndrome?
Werner Syndrome (WS) is also called as progeria adultorum, progeria of the adult and pangeria. It is the hereditary rapid, dramatic appearance of the signs of premature aging, predisposing the person to an increased risk of cancer and other diseases.
WS is the most common condition among the aging process disorders and is considered to represent the symptoms of normal human aging. Assessment findings show changes when individuals reach the puberty stage of their lives. Studies have reported that teenagers bearing this problem have a short stature as they do not have that growth spurt in them. WS characteristics are visible during the early twenties to include the graying and loss of hair, developing a hoarse voice and having a thin-hardened skin.
Symptoms of werner syndrome
Patients with WS are generally short statured because of the absence of the adolescent growth spurt. They also have decreased fertility. WS symptoms become apparent among those who belong in the late teenage group and in the early twenties and progress continuously. Most of them live until 50 years of age. The most common causes of death are associated with some diseases and complications, such as atherosclerosis and cancer.
The diagnosis of Werner Syndrome is based on six clinical symptoms:
- Premature graying of the hair or hair loss
This is the most common manifestation and the hair loss is usually noted as occurring first on the scalp of the person, then going to the eyebrows.
- Presence of bilateral cataracts
These types of cataracts are very different from those of normal aging, as they are associated with problems in the posterior cortex lens and subscapular regions. Cataract surgery is necessary to restore normal vision.
- Atrophied or tight skin
The skin can 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 which are difficult to manage and these are partly due to the decreased potential of skin cells replication.
- Soft tissue calcification
- Sharp facial features
The facial features are apparent due to the skin condition of the affected person with WS.
- Abnormal high-pitched voice
Causes of Werner Syndrome
Werner Syndrome is known 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 happen in the WRN gene can lead to Werner Syndrome. This WRN gene provides instructions in the manufacture of the Werner protein, to accomplish several tasks related to the maintenance and repair of DNA structure. The mutations that took place in the gene result to the production of an abnormally short Werner protein which is nonfunctional. The cells with an altered WRN protein are dividing itself very slow and or may even stop dividing at an earlier phase than normal, which can be the ultimate reason for retarded growth of the individual.
Werner Syndrome Facts
Werner Syndrome is considered to be a very rare condition. It is inherited through an autosomal recessive trait. The parents of individuals diagnosed to have WS are carrying one each of the mutated gene. The rate of incidence in the world is between 1:1,000,000 and 1:10,000,000; except for Japan where it is in a rate of 1:100,000 populations.
The associated diseases with WS are the following:
- Atherosclerosis
- Osteoporosis
- Diabetes mellitus
- Skin ulcers
Patients with WS are also at risk for the following types of cancer:
- Malignant melanoma
- Soft tissue sarcomas
- Thyroid cancer
- Liver cancer
Werner Syndrome Treatment
The cure for Werner Syndrome has not been discovered. Treatment is done to patients by managing the existing diseases and to relieve symptoms for the purpose of improving the quality of life.
Topical treatments can be used for minor skin ulcers, but these are not effective in controlling other new ulcers to occur. Surgery can be required in severe cases to implant a skin graft or to amputate a limb when called for in any given situation.
Diseases associated with WS such as diabetes mellitus and cancers are managed in a similar approach just like specialists do with normal individuals. Diet modification and some forms of recommended exercises can help prevent and control arteriosclerosis. Patients are encouraged to undergo regular screening tests for the detection of cancer.
Cytokinine-suppressive anti-inflammatory drug is another possible therapeutic options. This drug targets the p38 signaling pathway in relation to characteristic mutations with WS. The p38 pathway once activated may contribute towards the formation of premature cell aging, skin aging, graying of hair and the formation of cataracts. It stimulates an anti-inflammatory response that causes atherosclerosis, diabetes and osteoporosis.
Vitamin C supplementation was noted to reverse the premature aging and several tissue dysfunctions. It appears to normalize several age-related molecular markers. With some experimentation done on mice through a study, this vitamin C is suspected to be beneficial in the treatment of human WS.
References:
- http://emedicine.medscape.com/article/1114125-overview
- http://www.cancer.net/cancer-types/werner-syndrome
- http://ghr.nlm.nih.gov/condition/werner-syndrome
Masala MV, Scapaticci S, Olivieri C, Pirodda C, Montesu MA, Cuccuru MA et al. (2007). “Epidemiology and clinical aspects of Werner’s syndrome in North Sardinia: description of a cluster”. Eur J Dermatol 17 (3): 213–6.
Goto, Makoto (2004). Clinical Aspects of Werner’s Syndrome: Its Natural History and the Genetics of the Disease. Eurekah.com and Kluwer Academic / Plenum Publishing. p. 1.
James, William; Berger, Timothy; Elston, Dirk (2005). Andrews’ Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders.
