Syndromes depending on mutation in ZMPSTE-24 belong to the so-called secondary laminopathies. Figure 2 Prelamin A posttranslational processing. Progeria is not a unique model of aging. Another model of accelerated premature aging, in young adults, described by Werner, in 1904, is known as – Werner Akt signaling pathway syndrome (WS). A characteristic feature is scleroderma-like tight skin and bilateral cataracts. The clinical syndromes become apparent in the second decade of life. Clinical features Inhibitors,research,lifescience,medical include a short stature, bird-like facial appearance with skin wrinkling,

hair graying, thin skin on extremities with tendency to ulceration, hyperkeratosis and mottled pigmentation. Not unlike HGPS – atherosclerosis appears at a young age. In WS, atherosclerotic lesions are much more extensive in arterioles as compared to “normal” aging. Related abnormalities are bilateral cataract, osteoporosis, diabetes mellitus and hormonal insufficiency. Inhibitors,research,lifescience,medical Contrary to progeria, patients with Werner syndrome are at high risk of neoplasm, especially of mesenchymal origin, such as sarcoma and haematological malignancy. The ratio of mesenchymal to epithelial neoplasms is 1:10 in the “normal” population and 10:1. in Werner syndrome (20). Mean lifespan is 45 years

Inhibitors,research,lifescience,medical and the main causes of death – are complications of atherosclerosis and cancer. Underlying genetic defects include mutation in the RECQL2 gene on chromosome 8, which encodes DNA helicase WRN, an enzyme active in transcription and translation processes and in repair of damaged DNA. Inheritance

is autosomal recessive (21, 22). Inhibitors,research,lifescience,medical For the subgroup of Werner patients with more severe phenotype, due to the absence of mutations in WRN helicase gene, the name “atypical Werner syndrome” has been proposed. In some patients with the wild type of WRN gene, LMNA mutations have been disclosed, which allows these cases to be included in the group of laminopathies Inhibitors,research,lifescience,medical (mutation 169 G > C (A57P), 398 G > T (R133L), 419 T > G (L140R)) (23–25). Oxymatrine None of the diseases listed in Table ​Table11 represent a true model of aging. Both syndromes HGPS and WS are, however, of interest and may be important in the study of the difference between the cells in “normal” aging and senescence characteristic of these diseases (Table ​(Table11). Table 1 Comparison of Hutchinson-Gilford progeria (HGPS) and Werner (WRN) syndrome. Progeria is regarded as a model of a premature aging, therefore providing the possibility to follow-up the stages and mechanism of aging. It would be of interest to compare it with Werner syndrome, which is a model of slowly progressing aging in adults. Of special interest is the role of lamin A/C in system disorders i.e., in aging.

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