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Navigating Lipodystrophy: Insights from Laminopathies and Beyond
 
 
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Volume 25
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Review

Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes

by
Everardo Josué Díaz-López
1,2,
Sofía Sánchez-Iglesias
1,
Ana I. Castro
2,3,
Silvia Cobelo-Gómez
1,
Teresa Prado-Moraña
1,2,
David Araújo-Vilar
1,2 and
Antia Fernandez-Pombo
1,2,*
1
UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain
2
Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain
3
CIBER Fisiopatología de la Obesidad y la Nutrición (CIBERobn), 28029 Madrid, Spain
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2024, 25(17), 9324; https://doi.org/10.3390/ijms25179324
Submission received: 14 July 2024 / Revised: 20 August 2024 / Accepted: 26 August 2024 / Published: 28 August 2024
(This article belongs to the Special Issue Adipose Tissue Dynamics in Laminopathies)
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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 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.
Keywords: laminopathies; lipodystrophy; Dunnigan disease; FPLD; Hutchinson-Gilford progeria syndrome; mandibuloacral dysplasia; atypical progeroid syndrome; Nestor-Guillermo progeria syndrome; progeria; adipose tissue laminopathies; lipodystrophy; Dunnigan disease; FPLD; Hutchinson-Gilford progeria syndrome; mandibuloacral dysplasia; atypical progeroid syndrome; Nestor-Guillermo progeria syndrome; progeria; adipose tissue

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MDPI and ACS Style

Díaz-López, E.J.; Sánchez-Iglesias, S.; Castro, A.I.; Cobelo-Gómez, S.; Prado-Moraña, T.; Araújo-Vilar, D.; Fernandez-Pombo, A. Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes. Int. J. Mol. Sci. 2024, 25, 9324. https://doi.org/10.3390/ijms25179324

AMA Style

Díaz-López EJ, Sánchez-Iglesias S, Castro AI, Cobelo-Gómez S, Prado-Moraña T, Araújo-Vilar D, Fernandez-Pombo A. Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes. International Journal of Molecular Sciences. 2024; 25(17):9324. https://doi.org/10.3390/ijms25179324

Chicago/Turabian Style

Díaz-López, Everardo Josué, Sofía Sánchez-Iglesias, Ana I. Castro, Silvia Cobelo-Gómez, Teresa Prado-Moraña, David Araújo-Vilar, and Antia Fernandez-Pombo. 2024. "Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes" International Journal of Molecular Sciences 25, no. 17: 9324. https://doi.org/10.3390/ijms25179324

APA Style

Díaz-López, E. J., Sánchez-Iglesias, S., Castro, A. I., Cobelo-Gómez, S., Prado-Moraña, T., Araújo-Vilar, D., & Fernandez-Pombo, A. (2024). Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes. International Journal of Molecular Sciences, 25(17), 9324. https://doi.org/10.3390/ijms25179324

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