Mutations In Newly Discovered Microproteins Are Changing Our Understanding Of Human Disease

Thousands of previously “invisible” microproteins—tiny chains of fewer than 100 amino acids—can profoundly change human biology when mutated. Image by freepik

A fundamental discovery is overturning decades of molecular biology. Thousands of previously “invisible” microproteins—tiny chains of fewer than 100 amino acids—can profoundly change human biology when mutated. These small proteins, once dismissed as genetic noise, are now recognized as determinants of phenotype. They are capable of triggering dramatic shifts in cell function, disease susceptibility and even the development of entirely new traits. Recent research reveals that alterations in microprotein sequences can result in distinct clinical outcomes.

This redefines what we consider a “gene” and our understanding of genotype-t