Also known by the term "Progeria" - '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 gene is 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 of the Werner Syndrome phenotype, certainly, its implication, appear to be an important indicator to study and determine the normal aging process .
Last but not least, isolated and identified the gene associated with W.S., is available pre-natal screening to parents at high risk of having affected child. (Abstract)
Prof. Camillo O. Di Cicco, M.D. Member of “DNA Repair Interest Group”. 15th Congress of the European Academy of Dermatology and Venereology, Rhodes - Greece.