MELBOURNE, Oct. 21 (Xinhua) -- An international team of researchers has uncovered the genetic code governing the way genetic mutations affect mRNA and result in disease.
This breakthrough paves the way for mRNA therapeutics that could address serious disease, particularly under-researched conditions that are rare or population-specific, according to a statement released Monday by Australia's Monash University, which led the study involving Australian, Chinese, and Italian researchers.
The code allows researchers to look inside RNA splicing, an essential cellular process that is required to produce proteins in cells that help human body grow, develop and function, it said.
The finding allows researchers to link disease-associated genetic mutations that affect this process and develop suitable treatment options, said study lead researcher Professor Sureshkumar Balasubramanian of Monash University's School of Biological Sciences.
"This is not just hope, this is a clear explorable pathway to a cure for those who are living with some of the most debilitating and life-threatening conditions and diseases," he said.
Balasubramanian said they expect scientists to "begin using this finding right away to inform the development, and cures won't be too far behind that," as the finding allows for personalized therapeutic solutions for rare and under-researched genetic conditions and diseases.
MRNA acts as the key intermediate between DNA, the genetic blueprint, and proteins that carry out most of the work in cells, with RNA splicing ensuring proper reading of the blueprint by removing some sections of the RNA, "a bit like a book editor taking out unnecessary parts of a story to improve its quality," researchers said.
Genetic mutations can modify RNA splicing, affecting processes like growth and development, with defective RNA splicing resulting in serious and life-threatening genetic conditions and disease, including cancer, according to the study published in Nature Communications.
The research compared millions of splice-sites, the positions at which cutting and joining of RNA occurs, in plants before moving on to samples of more than 25 different species, including humans, using SpliSER, developed by Balasubramanian's team in 2021 to measure RNA splicing. ■