The increasing relevance of nuclear envelope myopathies

Nuclear envelope links to a wide range of disorders, including several myopathies and neuropathies over the past 2 decades, has spurred research leading to a completely changed view of this important cellular structure and its functions. However, the many functions now assigned to the nuclear envelope make it increasingly hard to determine which functions underlie these disorders.

New nuclear envelope functions in genome organization, regulation and repair, signaling, and nuclear and cellular mechanics have been added to its classical barrier function. Arguments can be made for any of these functions mediating abnormality in nuclear envelope disorders and data exist supporting many. Moreover, transient and/or distal nuclear envelope connections to other cellular proteins and structures may increase the complexity of these disorders.

Although the increased understanding of nuclear envelope functions has made it harder to distinguish specific causes of nuclear envelope disorders, this is because it has greatly expanded the spectrum of possible mechanisms underlying them. This change in perspective applies well beyond the known nuclear envelope disorders, potentially implicating the nuclear envelope in a much wider range of myopathies and neuropathies.