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Nuclear Envelope Dynamics in Health and Disease

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A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biology".

Deadline for manuscript submissions: closed (20 December 2022) | Viewed by 6749

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Special Issue Editors

Prof. Dr. Sandra Rebelo

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Guest Editor

Department of Medical Sciences, Institute of Biomedicine (iBiMED), University of Aveiro, 3810-193 Aveiro, Portugal
Interests: neurosciences; neurological diseases; protein phosphorylation; nuclear envelope biology; nuclear envelopathies; nuclear functions

Dr. Filipa Martins

E-Mail Website
Guest Editor

Department of Medical Sciences, Institute of Biomedicine (iBiMED), University of Aveiro, 3810-193 Aveiro, Portugal
Interests: neurosciences; neuropathology; neurodegenerative diseases; aging; cell biology; nuclear envelope

Special Issue Information

Dear Colleagues,

The nuclear envelope is the central organizing unit of the eukaryotic cell serving as a genome protective barrier and mechanotransduction interface between the cytoplasm and the nucleus. This specialized organelle is structurally composed of the inner and outer nuclear membranes, the nuclear pore complexes, and the nuclear lamina. Of note, the inner nuclear membrane–nuclear lamina–chromatin connection regulates several nuclear functions, namely chromatin organization, DNA replication and transcription, gene expression and cell signaling, as well as mechanotransduction, mitosis, and meiosis, together with outer nuclear membrane components.

The nuclear envelope is a highly dynamic organelle that is disorganized and re-organized during mitosis. At interphase, it is constantly being remodeled to adapt nucleus growth. Further, the nuclear envelope is also characterized by a huge morphological diversity and nuclear abnormalities including blebs, lobed nuclei, micronuclei, and nuclear invaginations. Considering the latter described nuclear envelope abnormalities, it has been hypothesized that nuclear envelope dysfunction is a molecular mechanism associated with several pathologies.

Overall, the identification of molecular mechanisms underlying nuclear envelope dysfunction, including upstream and downstream events, will be a determining factor for our understanding of several pathologies, including nuclear-envelope-associated diseases, aging, and cancer.

For this Special Issue of the International Journal of Molecular Sciences, we invite submissions of both original research articles and review articles focused on any aspect of the subject of “Nuclear Envelope Dynamics in Health and Disease”. Articles providing mechanistic and functional insights about nuclear envelope dysfunction associated with several pathologies at a cellular or molecular level, both in vitro and in vivo, are particularly welcome.

Prof. Dr. Sandra Rebelo
Dr. Filipa Martins
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

nuclear envelope
nuclear functions
nuclear envelope dysfunction
nuclear envelope abnormalities
nuclear envelopathies
cancer
aging

Published Papers (3 papers)

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Research

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20 pages, 3728 KiB

Open AccessArticle

Loss of the Nuclear Envelope Protein LAP1B Disrupts the Myogenic Differentiation of Patient-Derived Fibroblasts

by Gülsüm Kayman Kürekçi, Aybar C. Acar and Pervin R. Dinçer

Int. J. Mol. Sci. 2022, 23(21), 13615; https://doi.org/10.3390/ijms232113615 - 6 Nov 2022

Cited by 3 | Viewed by 1786

Abstract

Lamina-associated polypeptide 1 (LAP1) is a ubiquitously expressed inner nuclear membrane protein encoded by TOR1AIP1, and presents as two isoforms in humans, LAP1B and LAP1C. While loss of both isoforms results in a multisystemic progeroid-like syndrome, specific loss of LAP1B causes muscular dystrophy and cardiomyopathy, suggesting that LAP1B has a critical role in striated muscle. To gain more insight into the molecular pathophysiology underlying muscular dystrophy caused by LAP1B, we established a patient-derived fibroblast line that was transdifferentiated into myogenic cells using inducible MyoD expression. Compared to the controls, we observed strongly reduced myogenic differentiation and fusion potentials. Similar defects were observed in the C2C12 murine myoblasts carrying loss-of-function LAP1A/B mutations. Using RNA sequencing, we found that, despite MyoD overexpression and efficient cell cycle exit, transcriptional reprogramming of the LAP1B-deficient cells into the myogenic lineage is impaired with delayed activation of MYOG and muscle-specific genes. Gene set enrichment analyses suggested dysregulations of protein metabolism, extracellular matrix, and chromosome organization. Finally, we found that the LAP1B-deficient cells exhibit nuclear deformations, such as an increased number of micronuclei and altered morphometric parameters. This study uncovers the phenotypic and transcriptomic changes occurring during myoconversion of patient-derived LAP1B-deficient fibroblasts and provides a useful resource to gain insights into the mechanisms implicated in LAP1B-associated nuclear envelopathies. Full article

(This article belongs to the Special Issue Nuclear Envelope Dynamics in Health and Disease)

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20 pages, 4419 KiB

Open AccessArticle

Nuclear Envelope Alterations in Myotonic Dystrophy Type 1 Patient-Derived Fibroblasts

by Diana Viegas, Cátia D. Pereira, Filipa Martins, Tiago Mateus, Odete A. B. da Cruz e Silva, Maria Teresa Herdeiro and Sandra Rebelo

Int. J. Mol. Sci. 2022, 23(1), 522; https://doi.org/10.3390/ijms23010522 - 4 Jan 2022

Cited by 2 | Viewed by 2647

Abstract

Myotonic dystrophy type 1 (DM1) is a hereditary and multisystemic disease characterized by myotonia, progressive distal muscle weakness and atrophy. The molecular mechanisms underlying this disease are still poorly characterized, although there are some hypotheses that envisage to explain the multisystemic features observed in DM1. An emergent hypothesis is that nuclear envelope (NE) dysfunction may contribute to muscular dystrophies, particularly to DM1. Therefore, the main objective of the present study was to evaluate the nuclear profile of DM1 patient-derived and control fibroblasts and to determine the protein levels and subcellular distribution of relevant NE proteins in these cell lines. Our results demonstrated that DM1 patient-derived fibroblasts exhibited altered intracellular protein levels of lamin A/C, LAP1, SUN1, nesprin-1 and nesprin-2 when compared with the control fibroblasts. In addition, the results showed an altered location of these NE proteins accompanied by the presence of nuclear deformations (blebs, lobes and/or invaginations) and an increased number of nuclear inclusions. Regarding the nuclear profile, DM1 patient-derived fibroblasts had a larger nuclear area and a higher number of deformed nuclei and micronuclei than control-derived fibroblasts. These results reinforce the evidence that NE dysfunction is a highly relevant pathological characteristic observed in DM1. Full article

(This article belongs to the Special Issue Nuclear Envelope Dynamics in Health and Disease)

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Review

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17 pages, 1180 KiB

Open AccessReview

TOR1AIP1-Associated Nuclear Envelopathies

by Laurane Mackels, Xincheng Liu, Gisèle Bonne and Laurent Servais

Int. J. Mol. Sci. 2023, 24(8), 6911; https://doi.org/10.3390/ijms24086911 - 7 Apr 2023

Cited by 2 | Viewed by 1733

Abstract

Human TOR1AIP1 encodes LAP1, a nuclear envelope protein expressed in most human tissues, which has been linked to various biological processes and human diseases. The clinical spectrum of diseases related to mutations in TOR1AIP1 is broad, including muscular dystrophy, congenital myasthenic syndrome, cardiomyopathy, and multisystemic disease with or without progeroid features. Although rare, these recessively inherited disorders often lead to early death or considerable functional impairment. Developing a better understanding of the roles of LAP1 and mutant TOR1AIP1-associated phenotypes is paramount to allow therapeutic development. To facilitate further studies, this review provides an overview of the known interactions of LAP1 and summarizes the evidence for the function of this protein in human health. We then review the mutations in the TOR1AIP1 gene and the clinical and pathological characteristics of subjects with these mutations. Lastly, we discuss challenges to be addressed in the future. Full article

(This article belongs to the Special Issue Nuclear Envelope Dynamics in Health and Disease)

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