Lmna Genetic Analysis

The LMNA gene (1q21-22, MIM 150330) encodes two proteins of the nuclear envelope – lamin A and C. They are intermediate filament proteins necessary for function and structural integrity of the nucleus. Lamins consist of an amino-terminal head domain, a coiled-coil central rod domain and a carboxy-terminal tail domain (Fig. 1A). They form dimers by rod domains and then associate in head-to-tail polymers creating complex network conjunction with other proteins located underneath the inner membrane of the nucleus. Mutations in the LMNA gene affect lamins dimerization and assembly (Bank et al., 2011; Ben-Harush et al., 2009; Bertrand et al., 2012; Bhattacharjee P, 2013; Gangemi F, 2013; Shumaker et al., 2005; Wiesel et al., 2008; Zwerger et al., 2013). It apparently leads to nuclear stability loss and inability to perform functions in its entirety. The mutations in LMNA lead to at least 10 clinically distinct phenotypes, termed laminopathies, affecting different tissues such as cardiac and skeletal muscle, cutaneous, nervous and adipose tissue. There is no explicit relation between syndrome development and the mutation domain localization. A number of hot spots were described in the LMNA, but the major mutations common for laminopathies were not found. …show more content…
The experience one can get while matching the definite laminopathy symptoms with the mutations revealed in the patients LMNA gene, in any case, bring us closer to understanding the genetic basis of