ABOVE: Ribbon and surface representation models of the phenylalanine hydroxylase enzyme
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In a study published yesterday (August 5) in Science, researchers identify human and mouse long noncoding RNAs, whose loss mimics the metabolic disorder phenylketonuria (PKU) in human cells and mice. Injecting the human long noncoding RNA into a mouse model of the disease improved the animals’ symptoms, potentially pointing to new opportunities to develop treatments for human patients.
Scientists and clinicians have historically categorized PKU as a problem with the gene that encodes the enzyme phenylalanine hydroxylase (PAH), which converts the amino acid phenylalanine into tyrosine. Without this enzyme, phenylalanine consumed as part of a normal diet in foods such as milk, eggs, cheese, eggs, and meat builds up, causing seizures, intellectual disabilities, and psychiatric disorders. But DNA sequencing has demonstrated that sometimes people with PKU don’t have a mutation in the gene for PAH, calling into ...
