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Nucleopathies belong to a group of rare diseases, associated with nuclear protein abnormalities. The best characterized are laminopathies, depending on lamin A/C gene mutations and affecting tissues of mesenchymal origin. Among the so-called tissue-specific nucleopathies striated muscles and/or cardiac are the most frequently affected, among multisystemic nucleopathies, premature aging syndromes are particularly significant. Nucleopathies from both groups may be ranked in terms of age of first symptoms and the disease severity. Those which occur earlier, sometimes even in prenatal period, have the most serious, almost always lethal course. The article presents clinical description of nucleopathies in children, their causative mutations and pathophysiology.

Lamins belong to type V intermediate filaments superfamily. They are the main structural constituencies of the nuclear lamina but they also influence on chromatin structure, regulation of gene expression, localization and probably protein degradation. Because lamins play many different roles within the cell, mutations in their genes can results in variety of pathological phenotypes. Mutations in LMNA gene are the cause of many different diseases, called laminopathies. Among laminopathies are muscle tissue diseases, adipose tissue diseases and also progerias, the premature aging syndromes. One of the progerias, which results from mutation in LMNA gene, is Hutchinson-Gilford progeria syndrome (HGPS). It seems that the same molecular mechanisms which are responsible for premature aging of cells of HGPS patients, are involved in physiological aging.

Hutchinson-Gilford progeria causing premature aging of children is a genetic disease and according to most authors has an autosomal dominant inheritance. It has been regarded as a model of the process of aging. In 2003 mutations in the LMNA gene, localized f in chromosome 1, responsible for the disease, were identified. The most frequent mutation is located in exon 11, C1824T and does not change glycin in position 608 of protein chain, but activates cryptic splice site. This results in shortened lamin A synthesis which is named progerin. Point mutations in other exons of LMNA, found in progeria patients, are responsible for atypical phenotypes.

Acceleration of ageing of urban populations causes the urgent need to carry out research in this area. One of the proposed models of investigation may be progeria. The most frequent syndromes of progeria and the way they are inherited were described. Molecular mechanisms which have essential influence on premature ageing in progeria were discussed. Moreover, their analogies with natural biological process were presented.