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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: 30 June 2024 | Viewed by 1028

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

Manuscript Submission Information

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

Published Papers (1 paper)

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14 pages, 5003 KiB  
Effect of β-Estradiol on Adipogenesis in a 3T3-L1 Cell Model of Prelamin A Accumulation
Int. J. Mol. Sci. 2024, 25(2), 1282; https://doi.org/10.3390/ijms25021282 - 20 Jan 2024
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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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