Mocos, short for molybdenum cofactor sulfurase, is an enzyme-encoding gene involved in purine metabolism [2,3]. Purine metabolism is a crucial pathway that impacts various biological functions, and Mocos' role within it underlines its biological importance. Genetic models, like gene-knockout mouse models, have been instrumental in understanding Mocos functions.

In Mocos-deficient mice, targeted disruption of the Mocos gene leads to xanthinuria type II, an autosomal purine disorder. These mice die within 4 weeks of age due to renal failure from obstructive nephropathy. The condition is characterized by xanthinuria, xanthine deposits, cystic tubular dilation, Tamm-Horsfall protein deposits, tubular cell necrosis, and sometimes hydronephrosis with urolithiasis. There are also associated moderate interstitial inflammatory and fibrotic responses, anemia, reduced detoxification systems, and significant metabolic alterations in purines, amino acids, and phospholipids [1]. In contrast, heterozygous mice expressing reduced MOCOS protein remain healthy [1].

In conclusion, Mocos plays a vital role in purine metabolism, and its disruption in KO mouse models reveals its significance in maintaining normal renal function and metabolic homeostasis. These findings are crucial for understanding the pathogenesis of xanthinuria and potentially other related diseases [1].

References:

1. Sedda, Delphine, Mackowiak, Claire, Pailloux, Julie, Ryffel, Bernhard, Erard-Garcia, Madeleine. 2021. Deletion of Mocos Induces Xanthinuria with Obstructive Nephropathy and Major Metabolic Disorders in Mice. In Kidney360, 2, 1793-1806. doi:10.34067/KID.0001732021. https://pubmed.ncbi.nlm.nih.gov/35372998/

2. Taheri, Mohammad, Noroozi, Rezvan, Aghaei, Kamyar, Omrani, Mir Davood, Ghafouri-Fard, Soudeh. 2020. The rs594445 in MOCOS gene is associated with risk of autism spectrum disorder. In Metabolic brain disease, 35, 497-501. doi:10.1007/s11011-019-00524-y. https://pubmed.ncbi.nlm.nih.gov/31900757/

3. Féron, F, Gepner, B, Lacassagne, E, Nivet, E, Erard-Garcia, M. 2015. Olfactory stem cells reveal MOCOS as a new player in autism spectrum disorders. In Molecular psychiatry, 21, 1215-24. doi:10.1038/mp.2015.106. https://pubmed.ncbi.nlm.nih.gov/26239292/