AI Insight
Research published in FEBS Open Bio has discovered functional differences between ancient and modern versions of the PSPH gene, which encodes phosphoserine phosphatase, an enzyme critical for producing the amino acid L-serine. Certain modern variants of PSPH cause insufficient L-serine production, resulting in various neurodevelopmental problems and nervous system disorders. The study reveals that the ancient human genome version of this gene functioned differently from both current healthy versions and disease-causing variants.
Why it matters
Understanding how PSPH has evolved over time could help researchers better comprehend why certain modern variants cause neurodevelopmental conditions and potentially inform therapeutic approaches for disorders related to L-serine deficiency. This evolutionary perspective may provide insights into the development of treatments targeting PSPH-related neurological conditions.
Understand the Science
Certain variants in the PSPH gene, which encodes an enzyme called phosphoserine phosphatase, prevent the body from making sufficient amounts of the amino acid L-serine, leading to a range of nervous system problems. New research in FEBS Open Bio reveals that PSPH in ancient human genomes differed functionally from modern and disease-associated versions of the gene.
Source: New insights into the evolution of a gene linked to neurodevelopmental conditions