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 dysfunction.

This article was originally published on MedicalXpress.com

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