Gene Mutations and Protein Synthesis: Decoding the Roots of Genetic Disorders
Gene mutations cause systematic errors in protein synthesis by interfering with transcription initiation, splice site recognition, and translation fidelity. The ΔF508 mutation in the CFTR gene causes the loss of phenylalanine in the chloride channel domain, resulting in transmembrane transport dysfunction (cystic fibrosis) in 300,000 patients worldwide. This case confirms the common mechanism of more than 7,000 ClinVar pathogenic variants—80% of rare diseases originate from such molecular cascade disorders. Revealing the precise path from DNA mutation to protein functional defects is a prerequisite for developing CRISPR-mediated precision correction strategies.
