Abstract: Nuclear envelope proteins syndrome is an umbrella term of a series of human diseases induced by kinds of nuclear envelope structural proteins (lamins, SUNs, emerin, etc.) gene mutations, such as progeria. Due to the majority of mutations found in LMNA gene, these diseases are also named laminopathies, but their pathogenesis is still unclear. So the lamin A gene mutation C1294T was taken as a candidate to study the effect of gene mutations on the structure and function of cell nucleus and on the localization and function of related chromatin and nuclear membrane proteins. The research results showed that the LMNA mutation affected the integrity of structure and function of nuclear envelope, even resulted in the nuclear envelope wrinkle and shaped vesicles. In addition, the mutation had a certain inhibiting effect on the localization of chromatin in cell nucleus and the uneven distribution of chromosome in the nucleus. In conclusion, the LMNA mutation might affect the normal structure and function of nuclear envelope, and could further induce related diseases.

Key words: lamin A, LMNA, laminopathies, chromatin