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Double Duty: Early Research Reveals how a Single Drug Delivers Twice the Impact in Fragile X

Monday, June 27, 2022

Like many neurological diseases, there’s a lot we don’t understand about fragile X syndrome. But, after studying the disorder for several years, Lynne Maquat’s lab knew two important things: the enzyme AKT, which plays a key role in cell growth and survival, and the quality control pathway known as NMD (nonsense-mediated mRNA decay), are both in overdrive in fragile X.

In a new study in the journal Molecular Cell, the team reveals how these two major players interact, highlighting a complex molecular dance that could inform the development of future treatments for fragile X syndrome.

Two paths to pursue 

AKT is a hub for cell signaling, helping cells communicate about important processes like cell growth, proliferation and protein production. When cells are stressed – for example, in cancer, diabetes, heart disease and neurological disorders, including fragile X – AKT can send too many (or too few) signals or messages as part of a cell survival mechanism.    

NMD is like a molecular guide that helps our cells make smart decisions that (in most cases) improve cellular function and contribute to good health. For example, NMD supports gene expression by flagging and destroying mRNAs (messenger RNAs) that are carrying faulty genetic instructions that could lead to disease. It also helps our cells adjust to changes in development and in their environment, and more rapidly respond to certain stimuli.

Read More: Double Duty: Early Research Reveals how a Single Drug Delivers Twice the Impact in Fragile X

In the Pocket: RNA Binding Discovery Supports ‘RNA World’ Theory of Early Life on Earth

Friday, January 14, 2022

Benzi Kluger

RNA biologists at the University of Rochester Medical Center (URMC) have discovered that RNA, the chemical cousin of DNA, can bind two metabolites (small molecules) at the same time in a single binding pocket, causing those molecules to interact. This discovery, published in Nature Communications this week, could lead to new antibacterial drugs while helping to fill a gap in the controversial “RNA world” theory, which suggests that RNA molecules enabled life to evolve on Earth 3.5 billion years ago.  

 

Read More: In the Pocket: RNA Binding Discovery Supports ‘RNA World’ Theory of Early Life on Earth