Liu lab publishes new study in Nature that gives hope to cardiomyopathy patients with stop codon variants

CureHeart is excited to present groundbreaking new work from the Liu laboratory, published in the journal Nature.

The team have devised a way to readthrough the genetic mistakes that result in a stop codon that truncates the gene and effectively causes loss of function by not making enough protein. A large number of cardiomyopathy patients may have gene variants like this, including titin, myosin binding protein C and Lamin A/C. Although in principle this will work on a multiple genetic diseases as long as the type of stop codon variant is the same.  

The technology uses prime editing to generate a novel tRNA that skips the stop codon and makes the full length protein, in any gene, without having to target individual variants. This means that one medicine can be used to treat multiple patients irrespective of their individual genetic background.

Importantly, the treatment does not read through natural stop codons so should be safe to use in the long term. The proof has only been shown in cells and mice at this point, but it is hoped that this work could translate to the clinical setting in the future and benefit patients with loss of function “haploinsufficient” gene variants. However more tests are required to see how it could work in patients.

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