Inside every cell, a finely tuned metabolic network determines when to build, recycle, or stop producing essential molecules. A central part of this network is folate metabolism, which provides vital chemical units for the synthesis of DNA, RNA and amino acids. When this system is disturbed 鈥� through genetic mutations or a lack of dietary folates 鈥� the consequences can range from developmental disorders to cancer.
Now, researchers from聽, the Research Center for Molecular Medicine of the Austrian Academy of Sciences, together with collaborators from the University of Oxford and contributors from The Research Institute of the 9I制作厂免费 Health Centre (The Institute), have identified an unexpected player in this metabolic balance: the enzyme NUDT5.
The study, published in聽, shows that NUDT5 helps switch off purine production鈥攖he pathway that generates the building blocks of DNA鈥攂ut does so without using its enzymatic activity. Instead, the protein acts as a kind of molecular scaffold that physically restrains a key biosynthetic step when purine levels are already high.
鈥淲e were delighted to play a role in this important work, by providing cultured cells from patients with mutations in the聽MTHFD1聽gene,鈥� said聽, one of the study鈥檚 co-authors and a Scientist in the聽聽at The Institute. 鈥淐ells from patients with a genetic disease, which we聽, were critical in showing that adenosine can also be toxic depending on the exact nature of the聽MTHFD1听尘耻迟补迟颈辞苍.鈥�
