science
Nanopore Method Enables Single-Molecule Quantification of RNA Tandem Repeats
Researchers at the University of Cambridge have developed a nanopore-based strategy that directly measures tandem repeat lengths in native RNA, achieving 18-nucleotide resolution. The technique successfully discriminated repeat lengths linked to myotonic dystrophy types 1 and 2 as well as congenital central hypoventilation syndrome-1, and was applied to total RNA from a DM1 human cell line.
May 7, 8:00 PM·2m read1 source
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A single-molecule nanopore-based strategy enables direct quantification of tandem repeats in native RNA, overcoming limitations of conventional amplification-based methods that fail to resolve repeat length accurately due to amplification bias and sequence homogeneity.
Short tandem repeat expansions underlie a class of neurological and neuromuscular diseases known as repeat expansion disorders. By assembling RNA:DNA nanostructures that encode specific repeat number, the method achieved repeat size discrimination with a resolution of 18 nucleotides.
The approach successfully detected and discriminated disease-relevant repeat lengths associated with myotonic dystrophy type 1 (DM1). It likewise distinguished those linked to myotonic dystrophy type 2 (DM2) and congenital central hypoventilation syndrome-1. Researchers then applied the method to total RNA extracted from a DM1 human cell line model.
The technique is compatible with complex biological samples. com reported that the approach offers a platform for studying repeat expansion biology at the single-molecule level. The work carries broad implications for diagnostics, clinical research and multiplexed repeat profiling.
Gerardo Patiño-Guillén, Max Earle, Sergiu Petrușca, Ulrich F. Keyser and Filip Bošković conducted the research while affiliated with the Cavendish Laboratory, University of Cambridge. Jovan Pešović, Anastasija Ninković and Dušanka Savić-Pavićević are affiliated with the University of Belgrade—Faculty of Biology, Centre for Human Molecular Genetics, while Marko Panić is affiliated with the Institute of Virology, Vaccines and Sera “Torlak”, Belgrade.
