Werner Syndrome

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This Wiki Page was created and it is maintained by Mainá Bitar for the "Protein Structure and Function Analysis Practical" of 2011 (SS).

INTRODUCTION

The Werner Syndrome (WS) is an autosomal recessive disorder, also known as Adult Progeria. The syndrome was described for the first time in 1904 by Otto Werner (and therefore, named after him), in his PhD thesis entitled “Über katarakt in Verbindung mit Sklerodermie” (which can be translated to “About cataracts connected to sclerodermia”). In the first 90 years of research concerning WS, over 1000 patients were reported, 75% of which were Japanese descent (figure 1) [1]. WS is one of the several types of segmental progeroid syndromes, which affect multiple tissues and organs (on the other hand, unimodal syndromes predominantly affect a single organ) [2]. As one can expect, the most notable symptoms of WS mimic the background of the most general condition called Progeria, with a complex phenotype of accelerated aging. The patients prematurely acquire the appearance of someone several decades older, accompanied by loss or graying of hair, scleroderma-like skin and voice alterations, usually around the second or third decade of life [3]. The phenotype of WS was previously summarized as a “caricature of aging” [1].