Member
of“DNA Repair Interest Group” N.I.H. 15th Congress of the European Academy of Dermatology and Venereology, Rhodes - Greece
German physician
Otto Werner (1879-1936)
described the clinical picture of this syndrome in 1904,in four
sisters, defining the skin thin, tight, scleroderma-like, that mimics
premature aging, with bilateral cataracts associated. Also known with the termProgeria, "Prematurely Old"greek derivation, due to the fact that usually
presents wrinkling and aging of face. Progeria occurs in two forms: Progeria of childhood, described by Jonathan Hutchinson (1886) and Hastings Gilford (1897), diagnosed in the first or second year of life and Progeria adultorum commonly indicated as Werner Syndrome. Werner Syndrome is a very rare
disorder, his incidence, 1000 cases reported worldwide, is higher in
Sardinia and in Japan were are reported 800 cases (attributed to
inbreeding). W.S. is
an autosomal recessive disorder of chromosome 8,
defective gene is inherited, influences connettive tissue in every part of the body and
affects indifferently females and males. The beginning of WS is usually in
patients in their period of life between ages 13/19, or until a 30 years old. The clinical features of the disease
include short stature, less than 1,60 m, wrinkled skin, muscular
atrophy, early graying and loss of hair, voiced
characterized by high tone, subcutaneous calcification and nail
dystrophy. High levels
observed of collagenase from growing older
fibroblast is cause of loss of skin elasticity and to skin
wrinkling. Bilateral
cataracts usually are observed in patients during 20/40 years old, also
diabetes type 2, osteoporosis, scleroderma-like of the skin, high blood
pressure are commonly reported. Possibility besides of
premature menopause, hypo/agonadism and
retinitis pigmentosa. Increased are the prospects to display
cancer and cardiovascular disease (infarct, stroke). Neoplastic manifestations prevalently
reported: Carcinomas of the thyroid, Carcinomas
of the skin, including malignant melanoma, Sarcomas, Meningioma, Hematologic
malignancies. Survival
for patients is 46 years, causes of death are
malignant tumors and
atherosclerosis. Differently to the normal cells, W.S
patients cells shows in culture a shorter lifespan. The proceedings determining the Werner
Syndrome is identified with defect or deletion of a single gene named WRN.
The geneis in chromosome 8,on the region of bands 8p12-p11.2. Member of Helicase family, the WRN gene, is involved in DNA
repair, replication and transcription in the response to DNA damage.
Although continue to
be unknown in which way the mutations of WRN are cause ofthe Werner Syndrome phenotype,
certainly, itsimplication,
appear to be an important indicator tostudy and determinethe normal aging process .
Last but
not least, isolated and identified the gene associated with W.S., isavailablepre-natal screening to parents at
highrisk of having affected
child.to parents Pre
