ADCK4 “reenergizes” nephrotic syndrome

Single-cell transcriptomics of the mouse kidney reveals potential cellular targets of kidney disease

“…S11). While earlier studies had implicated defects in endothelial cells and proximal tubules in the development of proteinuria, and indeed functional and structural changes in these cell types can be seen in patients with proteinuria, our results unequivocally show that podocyte dysfunction is the principal reason for proteinuria (21). As another example, we found that the mouse homologs of genes associated with renal tubule acidosis (RTA) in humans were expressed only by intercalated cells (IC) of the collecting duct, confirming the major role of these cells in acid-base homeostasis (Fig.…”

Steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at <i>NPHS1</i> and <i>ADCK4</i> genes in two Chinese siblings

“…Furthermore, it has recently been shown that mutations in NPHS1 also account for a nonnegligible proportion of infantile, childhood and adult-onset SRNS cases (12)(13)(14). ADCK4 gene, which located on chromosome 19q13.2 and encodes the aarF domain containing kinase 4, is now well-known as a single-gene cause of SRNS (15)(16)(17).…”

The long noncoding RNA Tug1 connects metabolic changes with kidney disease in podocytes

“…Podocyte-specific insulin receptor-KO mice develop severe topathy and chronic kidney disease (CKD) (11). In animal models, genetic deletion of mitochondrial transcription factors such as Kruppel-like factor 6 (KLF6) specifically from podocytes not only causes mitochondrial defects but is sufficient to induce glomerulosclerosis and kidney failure (12).…”