Altered gene expression and functions of mitochondria in human nephrotic syndrome

摘要: The molecular basis of glomerular permselectivity remains largely unknown. congenital nephrotic syndrome the Finnish type (CNF) characterized by massive proteinuria already present but without extrarenal symptoms is a unique human disease model pure proteinuria. In search genes and pathophysiologic mechanisms associated with proteinuria, we used differential display-PCR to identify differences in gene expression between glomeruli from CNF control kidneys. A distinctly underexpressed PCR product kidneys showed over 98% identity mitochondrially encoded cytochrome c oxidase (COX I). Using full-length COX I cDNA probe, verified down-regulation mRNA 1/4 normal kidney values on Northern blots. addition, transcripts other respiratory chain complexes similar whereas respective nuclearly were expressed at comparable levels. Additional studies using histochemical, immunohistochemical, ...