Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure

Conclusions In this novel genetic disorder, fully penetrant heterozygous missense mutations in GATM trigger intramitochondrial fibrillary deposition of GATM and lead to elongated and abnormal mitochondria. We speculate that this renal proximal tubular mitochondrial pathology initiates a response from the inflammasome, with subsequent development of kidney fibrosis.

Source: Journal of the American Society of Nephrology : JASN - June 29, 2018 Category: Urology & Nephrology Authors: Reichold, M., Klootwijk, E. D., Reinders, J., Otto, E. A., Milani, M., Broeker, C., Laing, C., Wiesner, J., Devi, S., Zhou, W., Schmitt, R., Tegtmeier, I., Sterner, C., Doellerer, H., Renner, K., Oefner, P. J., Dettmer, K., Simbuerger, J. M., Witzgall, R. Tags: Basic Research Source Type: research