Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease

摘要: Two decades ago, molecular genetic analysis provided a new approach for defining the roots of inherited disorders. This strategy has proved particularly powerful because, with only description inheritance pattern, it can uncover previously unsuspected mechanisms pathogenesis that are not implicated by known biological pathways or disease manifestations. Nowhere impact genetics been more evident than in dominantly neurodegenerative disorders, where eight unrelated diseases have revealed to possess same type mutation--an expanded polyglutamine encoding sequence--affecting different genes.