WERNER SYNDROME

I share an important fact about why the name of Werner syndrome and clinical manifestations were analyzed spending time And the genes that are associated with Werner syndrome.

Werner Syndrome was first described by Dr. Otto Werner at the Kiel University in 1904 (Werner, 1904). In his thesis, Dr. Werner described scleroderma-like skin and cataracts in a sibship. Because this disorder shares some aspects of aging as described for two Japanese-American sisters, WS has been described as the "caricature of aging" (Epstein et al., 1966). 

Symptoms of some aging disorders, such as Hutchinson-Gilford progeria, may start to develop as early as infancy (Brown et al., 1985). In contrast, WS patients usually develop normally until they lack the pubertal growth spurt during adolescence, a symptom often recognized only retrospectively. Previous studies indicate that, although patients suffer a wide variety of age-related disorders, the chronology of symptoms appear to be similar between Caucasian and Japanese WS patients (Epstein et al., 1966; Goto et al., 1997). 

Individuals with the WRN null mutations prematurely develop an aged- appearance and age-related disorders including graying of the hair, hair loss, tight skin, cataracts, diabetes mellitus, hypogonadism, osteoporosis, atherosclerosis and cancers (Epstein et al., 1966; Martin et al., 1978; Tolesfbol and Cohen, 1984; Goto et al., 1997). The average age of clinical diagnosis of this syndrome is in the late thirties, and death usually occurs before the age of 55. The most common cause of death is cancer, followed by a vascular disease such as atherosclerosis (both myocardial and cerebrovascular). 


What genes are related to Werner syndrome?

Mutations in the WRN gene cause Werner syndrome. The WRN gene provides instructions for producing the Werner protein, which is thought to perform several tasks related to the maintenance and repair of DNA. This protein also assists in the process of copying (replicating) DNA in preparation for cell division. Mutations in the WRN gene often lead to the production of an abnormally short, nonfunctional Werner protein. Research suggests that this shortened protein is not transported to the cell's nucleus, where it normally interacts with DNA. Evidence also suggests that the altered protein is broken down more quickly in the cell than the normal Werner protein. Researchers do not fully understand how WRN mutations cause the signs and symptoms of Werner syndrome. Cells with an altered Werner protein may divide more slowly or stop dividing earlier than normal, causing growth problems. Also, the altered protein may allow DNA damage to accumulate, which could impair normal cell activities and cause the health problems associated with this condition.