부산대학교 도서관

Lamin A/C gene is one of most frequently reported mutated genes in dilated cardiomyopathy which is characterized by the dilatation of cardiac chambers and impaired contraction. Lamin A and C are major components of the nuclear lamina. From a cohort of DCM patients, we selected seven patients displaying major cardiomyocytes nucleus envelope abnormalities on electron microscopy images. In the DNA from these patients, we screened both Lamin A/C and thymopoietin genes for mutations by direct sequencing. Thymopoietin is the only lamin A/C binding partner previously shown to harbor a mutation in a DCM patient. Only one of these seven patients carried a mutation in the lamin A/C gene. No patient carried a mutation in the thymopoietin gene. In our control population of DCM patients with normal ultrastructural phenotype, two patients bore a lamin A/C gene mutation; none had a mutation in the thymopoietin gene. Taken together, our results suggest that patients with a clinical suspicion of lamin A/C mutation and with marked abnormality of cardiomyocytes nuclei might be free of both lamin A/C and thymopoietin germline mutation. These patients may therefore carry a mutation in another gene encoding a protein involved in the maintenance of the nuclear architecture or a somatic mutation. Furthermore, the occurrence of mutation in one of these genes does not necessary lead to cardiomyocyte nuclear envelope defects. [ABSTRACT FROM AUTHOR]