RNA solution for a genetic problem

Abstract

Phenylketonuria Phenylketonuria is a classic example of the benefit of newborn metabolic screening: It is a single-gene disease that can be detected at birth, and its neurological effects can be prevented by dietary therapy. Unfortunately, this is not always straightforward because the disease-causing mutations in phenylalanine hydroxylase vary between patients and affect the severity of the phenotype, such that some patients' symptoms do not fully respond to the available interventions. Li et al. identified two long noncoding RNAs, one in mice and one in humans, that interact with phenylalanine hydroxylase and modulate its function (see the Perspective by Ben-Tov Perry and Ulitsky). Administration of modified RNAs mimicking their effects ameliorated the disease phenotype in mouse models of phenylketonuria. Science , aba4991, this issue p. [662][1]; see also abj7969, p. [623][2] [1]: /lookup/doi/10.1126/science.aba4991 [2]: /lookup/doi/10.1126/science.abj7969