Rare bone disease mutation linked to kidney failure pathway, mouse study shows

Rare bone disease mutation linked to kidney failure pathway, mouse study shows

Researchers at University of Tsukuba have elucidated the molecular pathogenesis of multicentric carpotarsal osteolysis (MCTO), a rare hereditary disorder that frequently results in renal failure. Using a mouse model, they demonstrated that MCTO is caused by mutations in a transcription factor expressed in glomerular epithelial cells. In addition, they found that pharmacological inhibition of the associated signaling pathway ameliorates renal dysf