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Adipose Tissue Dynamics in Laminopathies
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Adipose Tissue Dynamics in Laminopathies

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 20 December 2024 | Viewed by 4808

Special Issue Editor

Dr. Elisa Schena

E-Mail Website
Guest Editor
CNR Institute of Molecular Genetics, Unit of Bologna, Bologna, Italy
Interests: laminopathies; cell biology of lamins

Special Issue Information

Dear Colleagues,

Lamin A, the major splicing product of the LMNA gene, is the main constituent of the nuclear lamina, a filamentous network underneath the nuclear membrane. Lamin A, in association with its nuclear envelope partners, plays a pivotal role in the organization of the nuclear architecture and in the regulation of several nuclear processes. Mutations in nuclear lamina/nuclear envelope proteins cause rare genetic diseases collectively referred to as laminopathies. Although clinically different from the other, all laminopathies present with adipose tissue dysfunction of various severities. It is becoming increasingly evident that adipose tissue dysfunction contributes to the pathogenesis of laminopathies in multiple organs. To date, neither lipodystrophy nor lipoatrophy has been improved by any of the pharmacological approaches attempted in laminopathic patients. However, many research groups are strongly committed to understanding the molecular mechanism(s) underlying LMNA-related adipose tissue loss. The aim of this Special Issue is to collect and summarize data, which can clarify the role of prelamin A in adipose tissue dynamics and pathogenetic pathways in order to provide relevant hints to refine current therapeutic strategies and suggest more efficient therapies.

Dr. Elisa Schena
Guest Editor

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Keywords

  • lamin A/C
  • prelamin A
  • progerin
  • laminopathies
  • adipose tissue
  • adipocyte differentiation
  • lipodystrophy
  • lipoatrophy
  • HGPS
  • FPLD2
  • MADA
  • EDMD

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Published Papers (3 papers)

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Research

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14 pages, 5003 KiB  
Article
Effect of β-Estradiol on Adipogenesis in a 3T3-L1 Cell Model of Prelamin A Accumulation
by Silvia Cobelo-Gómez, Sofía Sánchez-Iglesias, Antía Fernández-Pombo and David Araújo-Vilar
Int. J. Mol. Sci. 2024, 25(2), 1282; https://doi.org/10.3390/ijms25021282 - 20 Jan 2024
Cited by 1 | Viewed by 1769
Abstract
The accumulation of farnesylated prelamin A has been suggested as one of the mechanisms responsible for the loss of fat in type 2 familial partial lipodystrophy due to variants in the LMNA gene. In this rare disease, fat loss appears in women after [...] Read more.
The accumulation of farnesylated prelamin A has been suggested as one of the mechanisms responsible for the loss of fat in type 2 familial partial lipodystrophy due to variants in the LMNA gene. In this rare disease, fat loss appears in women after puberty, affecting sex-hormone-dependent anatomical areas. This study investigated the impact of 17-β-estradiol on adipogenesis in murine preadipocytes subjected to a pharmacologically induced accumulation of farnesylated and non-farnesylated prelamin A. To induce the accumulation of non-farnesylated or farnesylated prelamin A, 3T3-L1 cells were treated with the farnesyltransferase inhibitor 277 or the methyltransferase inhibitor N-acetyl-S-farnesyl-l-cysteine methylester. Subsequently, the cells were induced to undergo adipocyte differentiation in the presence or absence of 17-β-estradiol. Prelamin A accumulation was assessed through immunofluorescence, while real-time PCR and Western blot techniques were used to quantify several adipogenic genes and evaluate protein levels, respectively. The results showed that 17-β-estradiol increased adipogenesis, although the combination of this hormone plus farnesylated prelamin A led to a reduction in the number of mature adipocytes and the expression of the different genes involved in adipogenesis. In conclusion, the influence of farnesylated prelamin A accumulation on adipogenesis manifested only in the presence of estradiol. These in vitro findings suggest a potential mechanism that could explain the characteristic phenotype in women suffering type 2 familial partial lipodystrophy. Full article
(This article belongs to the Special Issue Adipose Tissue Dynamics in Laminopathies)
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Review

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25 pages, 3609 KiB  
Review
Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes
by Everardo Josué Díaz-López, Sofía Sánchez-Iglesias, Ana I. Castro, Silvia Cobelo-Gómez, Teresa Prado-Moraña, David Araújo-Vilar and Antia Fernandez-Pombo
Int. J. Mol. Sci. 2024, 25(17), 9324; https://doi.org/10.3390/ijms25179324 - 28 Aug 2024
Viewed by 904
Abstract
Lipodystrophic laminopathies are a group of ultra-rare disorders characterised by the presence of pathogenic variants in the same gene (LMNA) and other related genes, along with an impaired adipose tissue pattern and other features that are specific of each of these [...] Read more.
Lipodystrophic laminopathies are a group of ultra-rare disorders characterised by the presence of pathogenic variants in the same gene (LMNA) and other related genes, along with an impaired adipose tissue pattern and other features that are specific of each of these disorders. The most fascinating traits include their complex genotype-phenotype associations and clinical heterogeneity, ranging from Dunnigan disease, in which the most relevant feature is precisely adipose tissue dysfunction and lipodystrophy, to the other laminopathies affecting adipose tissue, which are also characterised by the presence of signs of premature ageing (Hutchinson Gilford-progeria syndrome, LMNA-atypical progeroid syndrome, mandibuloacral dysplasia types A and B, Nestor-Guillermo progeria syndrome, LMNA-associated cardiocutaneous progeria). This raises several questions when it comes to understanding how variants in the same gene can lead to similar adipose tissue disturbances and, at the same time, to such heterogeneous phenotypes and variable degrees of metabolic abnormalities. The present review aims to gather the molecular basis of adipose tissue impairment in lipodystrophic laminopathies, their main clinical aspects and recent therapeutic strategies. In addition, it also summarises the key aspects for their differential diagnosis. Full article
(This article belongs to the Special Issue Adipose Tissue Dynamics in Laminopathies)
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37 pages, 1252 KiB  
Review
Navigating Lipodystrophy: Insights from Laminopathies and Beyond
by Peter Krüger, Ramona Hartinger and Karima Djabali
Int. J. Mol. Sci. 2024, 25(15), 8020; https://doi.org/10.3390/ijms25158020 - 23 Jul 2024
Viewed by 1665
Abstract
Recent research into laminopathic lipodystrophies—rare genetic disorders caused by mutations in the LMNA gene—has greatly expanded our knowledge of their complex pathology and metabolic implications. These disorders, including Hutchinson-Gilford progeria syndrome (HGPS), Mandibuloacral Dysplasia (MAD), and Familial Partial Lipodystrophy (FPLD), serve as crucial [...] Read more.
Recent research into laminopathic lipodystrophies—rare genetic disorders caused by mutations in the LMNA gene—has greatly expanded our knowledge of their complex pathology and metabolic implications. These disorders, including Hutchinson-Gilford progeria syndrome (HGPS), Mandibuloacral Dysplasia (MAD), and Familial Partial Lipodystrophy (FPLD), serve as crucial models for studying accelerated aging and metabolic dysfunction, enhancing our understanding of the cellular and molecular mechanisms involved. Research on laminopathies has highlighted how LMNA mutations disrupt adipose tissue function and metabolic regulation, leading to altered fat distribution and metabolic pathway dysfunctions. Such insights improve our understanding of the pathophysiological interactions between genetic anomalies and metabolic processes. This review merges current knowledge on the phenotypic classifications of these diseases and their associated metabolic complications, such as insulin resistance, hypertriglyceridemia, hepatic steatosis, and metabolic syndrome, all of which elevate the risk of cardiovascular disease, stroke, and diabetes. Additionally, a range of published therapeutic strategies, including gene editing, antisense oligonucleotides, and novel pharmacological interventions aimed at addressing defective adipocyte differentiation and lipid metabolism, will be explored. These therapies target the core dysfunctional lamin A protein, aiming to mitigate symptoms and provide a foundation for addressing similar metabolic and genetic disorders. Full article
(This article belongs to the Special Issue Adipose Tissue Dynamics in Laminopathies)
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