Nephrin is a newly discovered protein, which is a key component of the kidney's ultrafiltration barrier, and a promising new molecular target for the treatment of proteinuria, a common symptom of most kidney diseases.
The laboratory of Dr. Karl Tryggvason, a cofounder of BioStratum, discovered the genetic defect that causes the disease congential nephrotic syndrome. The identified gene encodes for a protein named nephrin that has subsequently been determined to be the structural component of the slit diaphragm, the structure that links the podocyte pedicels (glomerular epithelial foot processes) at the interface with the glomerular basement membrane. The slit diaphragm, along with the fenestrated vascular endothelial cells and glomerular basement membrane, constitute the kidney's ultrafiltration barrier.
The massive proteinuria that develops in the absence of a functioning
nephrin molecule indicates the critical role that this protein plays in
the ultrafiltration barrier. Mutations in other proteins that comprise
the kidney's ultrafiltration barrier do not lead to such massive proteinuria.
While congenital nephrotic syndrome is a relatively rare disease, proteinuria
is a common consequence of most glomerular diseases. Thus we believe therapeutics
that increase the expression of nephrin may lead to an effective treatment
BioStratum scientists are searching for the gene that makes a
diabetic patient susceptible to developing kidney disease (nephropathy).
The identification of the diabetic nephropathy susceptibility gene(s)
and the protein(s) they encode could provide researchers with the identity
of biochemical pathways and targets that play a significant role in the
disease process, pointing the way for potential new and improved therapeutic
approaches. In addition, the determined genetic susceptibility factors
could provide for