When Lamins Go Bad: Nuclear Structure and Disease

摘要

When mutations in nuclear lamins were first identified in skeletal and cardiac muscle diseases, the molecular events underlying pathogenesis were mere points of speculation. As more and more unrelated diseases were linked to lamins and other nuclear envelope proteins, nuclear structure and disease became an increasingly prominent research focus. Today, the disease mechanisms remain unresolved, but incredible progress has occurred. Nuclear envelope dysfunction is not only associated with altered nuclear activity, but also impaired structural dynamics and aberrant cell signaling. Building on these findings, small molecules are being discovered in animal models that may become effective therapeutic agents.