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Scientists develop technique to spot tiny genetic code malfunctions

Source: Xinhua| 2026-01-27 17:31:15|Editor: huaxia

CANBERRA, Jan. 27 (Xinhua) -- An international team led by scientists in Australia has developed a technique to reveal the smallest of malfunctions in the biochemical machinery that makes proteins in human bodies.

These malfunctions, however small, can trigger neurodegenerative diseases such as Alzheimer's, Parkinson's, cancer and developmental disorders, said a statement of the Australian National University (ANU) on Tuesday.

The technique, which works by squeezing molecules through tiny holes in a silicon-based membrane, helps scientists understand how a mutation in a transfer RNA (tRNA) molecule affects the molecule's real-time structure, according to the study, published in Nucleic Acids Research.

The tRNA, part of our genetic code, acts as a molecular messenger crucial for building proteins, which are essential for the body's structure and function, it said, adding a mutation in tRNA can disrupt protein production and lead to disease.

The new ability to identify malfunctions in the body's protein-developing machinery could enable a better understanding of disease pathways and ultimately lead to new and more effective treatment options, according to ANU Professor Patrick Kluth.

"We are examining the machinery that builds proteins in the first place. It's like checking the assembly line rather than inspecting finished products, allowing us to catch and understand problems much earlier," Kluth said.

By analyzing more than 3 million tRNA molecules, the team, involving collaborators from the United States and Poland, found that the mutant tRNA molecules can be permanently stuck in unusual shapes, which triggers the onset of disease.

The technology can be used for screening potential therapeutic drugs that stabilize tRNA's functional shapes, leading to massive advances in disease treatments, said lead author Shankar Dutt from ANU.

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