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Human Diseases Related to Nuclear Envelope Proteins

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The Functional Nucleus

Abstract

The nuclear envelope has traditionally been looked at as a barrier separating the nucleus and cytoplasm and a complex organelle that disassembles and precisely reassembles during mitosis. However, the combination of cell biological discoveries localizing proteins to the nuclear envelope and human genetic investigations identifying disease-causing genes has show that the nuclear envelope must have tissue-selective functions beyond those general ones. Mutations in genes encoding proteins of the nuclear lamina, nuclear membranes, nuclear pore complexes and perinuclear space have been linked to a wide range of human diseases, sometimes called laminopathies or nuclear envelopathies, that often affect specific tissues and organ system. Genetic manipulations in model organisms and experiments on cultured cells have begun to decipher how mutations in genes encoding broadly expressed nuclear envelope proteins cause diseases. This research has even identified potential treatments for these rare diseases that impact on human health.

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Acknowledgements

The author is currently supported by grants from the United States National Institutes of Health (AR048997, NS059352, HD070713), the Muscular Dystrophy Association (MDA 294537) and Los Angeles Thoracic and Cardiovascular Foundation (CRV 2011-873R1).

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  1. Department of Medicine and Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY, 10032, USA

    Howard J. Worman

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  1. Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada

    David P. Bazett-Jones

  2. Dalhousie University, Halifax, Nova Scotia, Canada

    Graham Dellaire

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Worman, H.J. (2016). Human Diseases Related to Nuclear Envelope Proteins. In: Bazett-Jones, D., Dellaire, G. (eds) The Functional Nucleus. Springer, Cham. https://doi.org/10.1007/978-3-319-38882-3_1

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