RT Journal Article
T1 Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes
A1 Díaz-López, Everardo Josué
A1 Sánchez Iglesias, Sofía
A1 Castro, Ana Isabel
A1 Cobelo Gómez, Silvia
A1 Prado-Moraña, Teresa
A1 Araujo-Vilar, David
A1 Fernández-Pombo, Antía
K1 Laminopathies
K1 Lipodystrophy
K1 Dunnigan disease
K1 FPLD
K1 Hutchinson-Gilford progeria syndrome
K1 Mandibuloacral dysplasia
K1 Atypical progeroid syndrome
K1 Nestor-Guillermo progeria syndrome
K1 Progeria
K1 Adipose tissue
AB 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.
PB MDPI
YR 2024
FD 2024
LK http://hdl.handle.net/10347/34728
UL http://hdl.handle.net/10347/34728
LA eng
NO 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
NO This study was supported by the Instituto de Salud Carlos III (grant PI22/00514) and co-funded by the European Union and an intramural grant from the Xunta de Galicia, ED431B 2020/37. A.F.-P. is funded by a Juan Rodes research contract (JR23/00042) from the Instituto de Salud Carlos III (ISCIII), co-financed by the ERDF. S.S.-I. was awarded a Research Fellowship by the Asociación Española de Familiares y Afectados de Lipodistrofias (AELIP).
DS Minerva
RD 24 abr 2026