Lamin C protein deficiency in the primary fibroblasts from a new laminopathy case with ovarian cystadenoma

作     者：CAI Meng-yin LIANG Hua LI Ming BI Yan CHEN Xiang SUN Wei-ping WENG Jian-ping 

作者机构：Department of Endocrinology Third Affiliated Hospital of Sun Yat-sen University Guangzhou Guangdong 510630 China 

出 版 物：《Chinese Medical Journal》 (中华医学杂志（英文版）)

年 卷 期：2010年第123卷第16期

页      面：2237-2243页

核心收录：

学科分类：1002[医学-临床医学] 100210[医学-外科学(含：普外、骨外、泌尿外、胸心外、神外、整形、烧伤、野战外)] 10[医学] 

基　　金：This study was supported by grants from the Science and Technology Planning Project of Guangdong Province  China (No.2008B030301335)  Natural Science Foundation of Guangdong Province  China (No.8151008901000196)  Medical Scientific Research Foundation of Guangdong Province  China (No.B2008045)  China Postdoctoral Science Foundation (No.20060390754) and Sanofi-aventis. We acknowledge with thanks for Prof. XIANG Kun-san from No. 6 People's Hospital of Shanghai Jiao Tong University with his kindly advices on this study  and Dr. LIU Dong-nian from the Second Affiliated Hospital of Guangzhou Medical College for his kindly cooperation. We also thank the patient and her family for their support 

主　　题：laminopathy lamin C premature aging pRb p53 

摘      要：Background Laminopathies are a group of rare genetic disorders characterized by multiple-tissue *** describe a new laminopathy with ovarian cystadenoma and explore its molecular *** The case is a 15-year-old girl who presents the prominent progeroid disorders, multiple system degeneration and early-onset cystadenoma of the *** genes including LMNA, ZMPSTE24, PPAR G, INSR and WRN were sequenced to screen for DNA *** mRNA and protein expression levels of LMNA were examined in primary *** pathophysiological events such as morphologic alterations, cell senescence, cell proliferation,apoptosis and pRb as well as p53 protein expressions were also investigated in primary *** No mutation was identified in the candidate genes *** abnormalities including nuclear blebs,mislocalization of lamin A/C were evident in the patient ***, nucleus exhibited nuclear herniation and almost complete loss of peripheral *** addition, lamin C protein expression was markedly reduced whereas lamin A protein level was normal and no prelamin A was detected in the primary *** the senescence-associated β-galactosidase staining of patient＇ cells was negative, cells in S phase increased in accompany with a decrease in pRb protein ***, increases in apoptotic cell death and p53 expression were *** Our data suggest that selective deficiency of lamin C protein is associated with a case of laminopathy with ovarian *** abnormalities in nuclear structure and alterations in gene expression such as the decrease in pRb and increase in p53 may be responsible for the multiple tissue degeneration.