NPHS2 gene polymorphism aggravates renal damage caused by focal segmental glomerulosclerosis with COL4A3 mutation

Sun，Liping1,2; Zhang，Xinzhou1,2; Wang，Zhen1,2

2021

10.1042/BSR20203248

BIOSCIENCE REPORTS   影响因子和分区

0144-8463

1573-4935

Focal segmental glomerulosclerosis (FSGS), a type of primary glomerular disease, is the leading cause of end-stage renal disease (ESRD). Several studies have revealed that certain single-gene mutations are involved in the pathogenesis of FSGS; however, the main cause of FSGS has not been fully elucidated. Homozygous mutations in the glomerular basement membrane gene can lead to early renal failure, while heterozygous carriers develop renal failure symptoms late. Here, molecular genetic analysis of clinical information collected from clinical reports and medical records was performed. Results revealed that nephrosis 2 (NPHS2) gene polymorphism aggravated renal damage in three FSGS families with heterozygous COL4A3 mutation, leading to early renal failure in index patients. Our findings suggest that COL4A3 and NPHS2 may have a synergistic effect on renal injury caused by FSGS. Further analysis of the glomerular filtration barrier could help assess the cause of kidney damage. Moreover, a detailed analysis of the glomerular basement membrane-related genes and podocyte structural proteins may help us better understand FSGS pathogenesis and provide insights into the prognosis and treatment of hereditary glomerulonephropathy.

SCI

英语

通讯

Shenzhen Key Laboratory of Renal[ZDSYS201504301616234] ; Youth Research Cadre Cultivation Project of Shenzhen People's Hospital[SYKYPY201904] ; Guangdong Science and Technology Project, China[A2019416]

Biochemistry & Molecular Biology ; Cell Biology

Biochemistry & Molecular Biology ; Cell Biology

WOS:000629114800059

PORTLAND PRESS LTD

MOLECULAR BIOLOGY & GENETICS

2-s2.0-85099120527

Scopus

1.Shenzhen Key Laboratory of Renal,Department of Nephrology,Shenzhen People's Hospital,Second Clinical Medical College,Jinan University,Guangdong,China
2.First Affiliated Hospital,Southern University of Science and Technology,Shenzhen, Guangdong,518020,China

Sun，Liping,Zhang，Xinzhou,Wang，Zhen. NPHS2 gene polymorphism aggravates renal damage caused by focal segmental glomerulosclerosis with COL4A3 mutation[J]. BIOSCIENCE REPORTS,2021,41(1).

Sun，Liping,Zhang，Xinzhou,&Wang，Zhen.(2021).NPHS2 gene polymorphism aggravates renal damage caused by focal segmental glomerulosclerosis with COL4A3 mutation.BIOSCIENCE REPORTS,41(1).

Sun，Liping,et al."NPHS2 gene polymorphism aggravates renal damage caused by focal segmental glomerulosclerosis with COL4A3 mutation".BIOSCIENCE REPORTS 41.1(2021).