NAD+ Deficiency Drives Kidney Dysfunction in Cockayne Syndrome: Preclinical Findings

Synopsis

Cockayne Syndrome (CS) is a premature aging disorder caused by mutations in the CSA and CSB genes, leading to problems like early aging, nerve damage, and kidney dysfunction. Cells from CS patients show low levels of NAD+, a molecule essential for cell health and kidney function. This study found that CS mice have severe kidney damage and impaired NAD+ production. In human kidney cells, reducing CSA or CSB caused persistent activation of a gene regulator (ATF3) that blocks a key enzyme for making NAD+, leading to low NAD+ levels and disrupted kidney cell function.

Journal

Cell Death & Differentiation