WITHDRAWN: Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

Cau, Pierre; Navarro, Claire; Harhouri, Karim; Roll, Patrice; Sigaudy, Sabine; Kaspi, Elise; Perrin, Sophie; Sandre-Giovannoli, Annachiara De; Lévy, Nicolas

doi:10.1016/j.semcdb.2014.03.022

Cited by 6 publications

(4 citation statements)

References 453 publications

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“…Moreover, as described above, miR-9 is known to regulate the expression MALAT-1 [ 116 ], which is also implicated in the regulation of several splicing factors, such as serine-arginine (SR)-rich splicing factors (SRSF) 1, 2 and 3 [ 124 ]. SRSF1, like SRSF6, controls LMNA pre-mRNA alternative splicing, leading to the production of lamin A and progerin in HGPS cells and during physiological aging in a less extend [ 21 , 125 ]. MALAT-1 interacts with SRSF1 and modulates its expression in in vitro models by controlling the ratio of phosphorylated to dephosphorylated pools of SRSF1 [ 124 , 126 ].…”

Section: Potential Mechanisms Of A-type Lamins Regulation In Lung mentioning

confidence: 99%

“…Indeed, ZMPSTE24/FACE1 removes the last 15 amino acids of the precursor leading to the release of a mature non farnesylated protein. Therefore, while B-type lamins remain attached to the nuclear envelope thanks to their farnesyl anchor where they participate to the composition of nuclear lamina , lamin A and lamin C are localized simultaneously to the lamina and the rest of nuclear matrix [ 8 , 21 , 22 , 23 ].…”

Section: Introductionmentioning

confidence: 99%

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Lamins in Lung Cancer: Biomarkers and Key Factors for Disease Progression through miR-9 Regulation?

Guinde

Frankel

Perrin

et al. 2018

Cells

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Lung cancer represents the primary cause of cancer death in the world. Malignant cells identification and characterization are crucial for the diagnosis and management of patients with primary or metastatic cancers. In this context, the identification of new biomarkers is essential to improve the differential diagnosis between cancer subtypes, to select the most appropriate therapy, and to establish prognostic correlations. Nuclear abnormalities are hallmarks of carcinoma cells and are used as cytological diagnostic criteria of malignancy. Lamins (divided into A- and B-types) are localized in the nuclear matrix comprising nuclear lamina, where they act as scaffolding protein, involved in many nuclear functions, with regulatory effects on the cell cycle and differentiation, senescence and apoptosis. Previous studies have suggested that lamins are involved in tumor development and progression with opposite results concerning their prognostic role. This review provides an overview of lamins expression in lung cancer and the relevance of these findings for disease diagnosis and prognosis. Furthermore, we discuss the link between A-type lamins expression in lung carcinoma cells and nuclear deformability, epithelial to mesenchymal transition, and metastatic potential, and which mechanisms could regulate A-type lamins expression in lung cancer, such as the microRNA miR-9.

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Section: Potential Mechanisms Of A-type Lamins Regulation In Lung mentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Lamins in Lung Cancer: Biomarkers and Key Factors for Disease Progression through miR-9 Regulation?

Guinde

Frankel

Perrin

et al. 2018

Cells

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“…Cluster 1 most significant annotations pertain to DNA repair processes. The maintenance of nuclear envelope integrity is closely tied to DNA repair, as evidenced by the intra-nuclear accumulation of progerin (the truncated isoform of prelamin A in Hutchinson-Gilford Progeria Syndrome) leading to impaired repair of double-strand DNA breaks and delayed recruitment of ATM proteins at breakage sites (Cau et al, 2014). While existing evidence underscores such functional link between nuclear envelope architecture and DNA repair, we hypothesize that the discovery of novel interactions and the expansion of biological networks may lead to the division of Cluster 1 into two subclusters, potentially reflecting functional nuances among these PA diseases.…”

Section: Discussionmentioning

confidence: 99%

The molecular landscape of premature aging diseases defined by multilayer network exploration

Beust,

Valdeolivas,

Baptista

et al. 2023

Preprint

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Premature Aging (PA) diseases are rare genetic disorders that mimic some aspects of physiological aging at an early age. Various causative genes of PA diseases have been identified in recent years, providing insights into some dysfunctional cellular functions. However, the identification of PA genes also revealed significant genetic heterogeneity and highlighted the gaps in our understanding of PA molecular mechanisms. Furthermore, many patients remain undiagnosed. Overall, the current lack of knowledge about PA diseases hinders the development of effective diagnosis and therapies and poses significant challenges to improving patient care.Here, we present a network-based approach to systematically unravel the cellular functions disrupted in PA diseases. Leveraging a novel community identification algorithm, we delved into a vast multilayer network of biological interactions to extract the communities of 67 PA diseases from their 132 associated genes. We found that these communities can be grouped into six distinct clusters, each reflecting specific cellular functions: DNA repair, cell cycle, transcription regulation, inflammation, cell communication, and vesicle-mediated transport. We propose that these clusters collectively represent the landscape of the molecular mechanisms that are perturbed in PA diseases, providing a framework for better understanding their pathogenesis. Intriguingly, most clusters also exhibited a significant enrichment in genes associated with physiological aging, suggesting a potential overlap between the molecular underpinnings of PA diseases and natural aging.

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“…Progeria, one of the most severe diseases with premature aging, is most commonly caused by a dominant mutation (c. 1824C > T) in LMNA , the gene encoding A-type lamins [ 2 , 3 ]. This mutation leads to an internal deletion of 50 amino acids and removes the ZMPSTE24 cleavage site within prelamin A. Consequently, the resulting mutant prelamin A (called progerin) cannot be cleaved and accumulates in cells, exerting a toxic effect by NE perturbation [ 4 ]. Familial Partial Lipodystrophy syndromes (FPL) also result from heterozygous mutations in lamin A, often producing maturation defects and prelamin A accumulation, although less drastic than in Progeria.…”

Section: Introductionmentioning

confidence: 99%

A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

Galant

Gaborit

Desgrouas

et al. 2016

Cells

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ZMPSTE24 encodes the only metalloprotease, which transforms prelamin into mature lamin A. Up to now, mutations in ZMPSTE24 have been linked to Restrictive Dermopathy (RD), Progeria or Mandibulo-Acral Dysplasia (MAD). We report here the phenotype of a patient referred for severe metabolic syndrome and cardiomyopathy, carrying a mutation in ZMPSTE24. The patient presented with a partial lipodystrophic syndrome associating hypertriglyceridemia, early onset type 2 diabetes, and android obesity with truncal and abdominal fat accumulation but without subcutaneous lipoatrophy. Other clinical features included acanthosis nigricans, liver steatosis, dilated cardiomyopathy, and high myocardial and hepatic triglycerides content. Mutated fibroblasts from the patient showed increased nuclear shape abnormalities and premature senescence as demonstrated by a decreased Population Doubling Level, an increased beta-galactosidase activity and a decreased BrdU incorporation rate. Reduced prelamin A expression by siRNA targeted toward LMNA transcripts resulted in decreased nuclear anomalies. We show here that a central obesity without subcutaneous lipoatrophy is associated with a laminopathy due to a heterozygous missense mutation in ZMPSTE24. Given the high prevalence of metabolic syndrome and android obesity in the general population, and in the absence of familial study, the causative link between mutation and phenotype cannot be formally established. Nevertheless, altered lamina architecture observed in mutated fibroblasts are responsible for premature cellular senescence and could contribute to the phenotype observed in this patient.

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WITHDRAWN: Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

Cited by 6 publications

References 453 publications

Lamins in Lung Cancer: Biomarkers and Key Factors for Disease Progression through miR-9 Regulation?

Lamins in Lung Cancer: Biomarkers and Key Factors for Disease Progression through miR-9 Regulation?

The molecular landscape of premature aging diseases defined by multilayer network exploration

A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

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