A SIGNIFICANT breakthrough has been made in the fight against devastating genetic diseases such as cystic fibrosis, muscular dystrophy and some cancers.
Scientists have discovered ways of altering the course of the potentially fatal diseases by changing the genetic code.
This code is the set of instructions that tell a cell how to make a specific protein. Central to the body’s protein production process is messenger RNA (mRNA), which takes these instructions from DNA and directs the steps necessary to build a protein.
For the first time, researchers at the University of Rochester Medical Center in New York artificially modified mRNA, changing the original instructions for creating the protein.
This results in a different protein than originally called for, according to the study published in the journal Nature.
The chairman of the university’s biochemistry and biophysics department Robert Bambara said: “The ability to manipulate the production of a protein from a particular gene is the new miracle of modern medicine. This is a really powerful concept that can be used to try to suppress the tendency of individuals to get certain debilitating, and sometimes fatal, genetic diseases that will forever change their lives.”
Protein production is far from perfect and mutations or mistakes in DNA and mRNA can lead to flawed proteins that have the potential to cause serious harm.
In the study, researchers focused on a common type of mutation that occurs when an mRNA molecule contains a premature “stop” signal, known as a premature stop codon.
A premature stop codon orders a cell to stop reading the genetic instructions part-way through the process, resulting in the creation of an incomplete, shortened protein.
Researchers were able to alter mRNA in a way that turned a stop signal into a “go” signal.
As a result, the cell could read the genetic instructions all the way through and create a normal, full-length protein. The team produced these results both in test tube and in live yeast cells.
The study’s lead author Yi-Tao Yu said: “This is a very exciting finding. No one ever imagined that you could alter a stop codon the way we have and allow translation to continue uninterrupted like it was never there in the first place.”
It is estimated about a third of genetic diseases are caused by the presence of premature stop codons that result in shortened proteins.
The results could aid the development of treatments to help the body override stop codons and produce adequate amounts of full- length proteins, whose absence causes diseases like cystic fibrosis and contributes to various cancers.
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