Researchers have developed a technique that can identify errors caused by mutations linked to a range of genetic disorders, including forms of muscular dystrophy, Huntington’s disease and amyotrophic lateral sclerosis (ALS), which could accelerate accurate diagnosis of these conditions.
The technique, developed by researchers led by the University of Cambridge, uses RNA samples stretched into usable shapes and tiny glass holes known as nanopores, to analyse sections of RNA that have multiplied far beyond their normal length.
These expanded stretches interrupt the cell’s machinery and can trigger conditions known as repeat expansion disorders, which affect approximately one in every 280 people. Scientists say that as many of 90% of people with these disorders are undiagnosed, which poses the need for a fast and affordable test for sizing the repeats.
The genomic DNA in our cells contains many stretches of simple repetitive sequences, but in repeat expansion disorders, the size of the expansion will often affect the onset and severity of the disease. However, measuring these expansions is notoriously difficult.
“RNA is incredibly informative in terms of what it can tell you about the disorders we want to study, but it’s also incredibly fragile and often challenging to study,” said lead author Gerardo Patiño‑Guillén, from Cambridge’s Cavendish Laboratory. “Current techniques were designed for DNA, so they often lose the information in RNA that signals disease. We wanted to fix that.”
