Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology.
Urinary losses of macromolecules in nephrotic syndrome (NS) reflect a dysfunction of the highly permselective glomerular filtration barrier. Genetic studies of hereditary forms of NS have led to the identification of proteins playing a crucial role in slit-diaphragm signalling, regulation of actin cytoskeleton dynamics, maintenance of podocyte integrity and cell-matrix interactions. This review will focus on recent molecular and clinical findings in the field of genetics of NS, thereby providing a better understanding of the complex glomerular filtration barrier physiology.
Machuca
Eduardo
E
Inserm, U574, Hôpital Necker-Enfants Malades, Paris, France.
Benoit
Geneviève
G
Antignac
Corinne
C
D000818:Animals; D021982:Cell-Matrix Junctions / Q000473:pathology; D006801:Humans; D008247:Lysosomes / Q000473:pathology; D008928:Mitochondria / Q000473:pathology; D008967:Molecular Biology; D009404:Nephrotic Syndrome / Q000235:genetics* / Q000503:physiopathology*; D050199:Podocytes / Q000473:pathology / Q000502:physiology*