New discovery of the new of familial FSGS susceptibility gene INF2 pathogenic mechanism

Recently, the international Biological Sciences Research top academic journals, "the U.S. National Academy of Sciences (PNAS), published online the latest achievements of the Shanghai Jiaotong University Affiliated Shanghai Children's Medical Center researchers. The new familial FSGS susceptibility gene the INF2 pathogenic mechanism for the new discovery "published article, the author is a child center pediatric into the Institute of Medicine, Department of Nephrology, the children's genetic disease task force member Dr. Sun Hua.
FSGS is a class performance for children and adults with kidney disease, chronic progressive glomerular diseases, the vast majority of clinical manifestations in patients with steroid resistant nephrotic syndrome. FSGS also contributed to the deterioration of renal function and chronic renal failure, the most important glomerular disease type, treatment antagonism exists, therefore, its pathogenesis and treatment strategies become hot and difficult in the field of diagnosis and treatment of kidney disease. The Shanghai Children's Medical Center is transformed into the Institute of Medicine Dr. Sun Hua group the use of cloning and mutation, as well as a series of protein interactions, the implementation of the pedigree linkage analysis was first discovered in the glomerular podocytes, INF2 negative adjustment of Rho / mDia was activated through interaction with the cell actin cytoskeleton regulatory protein mDia, cytoskeleton caused by heterogeneous and phenotypic changes of podocytes, thereby maintaining the normal function of podocytes, and confirmed that the INF2 pathogenic mutations interfere with this interactions lead to podocyte injury signal susceptibility, but also confirmed the new FSGS susceptibility gene INF2 mutations cause familial nephropathy. On this basis, the group further explore the pathogenic significance of these mutations, of FSGS susceptibility gene mutation is to affect or determine the clinical phenotype, disease progression, treatment response and prognosis, as well as important genetic factor for transplant relapse rate . The study comes from clinical cases of genetic data, from the molecular level interpretation of the INF2 mutations lead to the pathogenesis of FSGS, as well as the relationship of different mutations and different clinical phenotypes and prognosis. The study is also a very useful exploration of translational medicine and the practice of individualized treatment.
This research project has been the EPT of Shanghai Children's Medical Center of the Training Scheme funding; at the same time, Harvard Medical School hereditary kidney disease laboratory for this research project has also given strong support.