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Article

Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant

1
UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain
2
Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain
3
Burnett School of Biomedical Sciences, College of Medicine, University of Central Florida, Orlando, FL 32827, USA
4
Department of Hematology, University Clinical Hospital of Santiago de Compostela, Santiago de Compostela, 15706 Santiago de Compostela, Spain
5
CIBER Fisiopatología de la Obesidad y la Nutrición (CIBERobn), 28029 Madrid, Spain
6
Division of Internal Medicine, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain
7
Fundación Galega de Medicina Xenómica, 15706 Santiago de Compostela, Spain
*
Author to whom correspondence should be addressed.
These authors contributed equally to this manuscript.
Academic Editors: Emmanuel Andrès and Katrien Benhalima
J. Clin. Med. 2021, 10(7), 1497; https://doi.org/10.3390/jcm10071497
Received: 30 January 2021 / Revised: 8 March 2021 / Accepted: 1 April 2021 / Published: 3 April 2021
Type 2 familial partial lipodystrophy, or Dunnigan disease, is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution. This rare condition results from variants principally affecting exons 8 and 11 of the LMNA gene. In this study, five FPLD2-diagnosed patients carrying the c.1583C>T, p.(Thr528Met) variant in exon 9 of the LMNA gene and with obvious clinical heterogeneity were evaluated. Specific polymorphisms in LMNA and in PPARG were also detected. Exhaustive clinical course, physical examination, biochemical features and family history were recorded, along with the assessment of anthropometric features and body composition by dual-energy X-ray absorptiometry. Preadipocytes obtained from a T528M patient were treated with the classic adipose differentiation medium with pioglitazone. Various adipogenes were evaluated by real-time PCR, and immunofluorescence was used to study intracellular localization of emerin, lamin A and its precursors. As demonstrated with Oil red O staining, the preadipocytes of the T528M patient failed to differentiate, the expression of various adipogenic genes was reduced in the lipodystrophic patient and immunofluorescence studies showed an accumulation of farnesylated prelamin A in T528M cells. We conclude that the T528M variant in LMNA could lead to FPLD2, as the adipogenic machinery is compromised. View Full-Text
Keywords: type 2 familial partial lipodystrophy; FPLD2; LMNA; T528M type 2 familial partial lipodystrophy; FPLD2; LMNA; T528M
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MDPI and ACS Style

Araújo-Vilar, D.; Fernández-Pombo, A.; Victoria, B.; Mosquera-Orgueira, A.; Cobelo-Gómez, S.; Castro-Pais, A.; Hermida-Ameijeiras, Á.; Loidi, L.; Sánchez-Iglesias, S. Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant. J. Clin. Med. 2021, 10, 1497. https://doi.org/10.3390/jcm10071497

AMA Style

Araújo-Vilar D, Fernández-Pombo A, Victoria B, Mosquera-Orgueira A, Cobelo-Gómez S, Castro-Pais A, Hermida-Ameijeiras Á, Loidi L, Sánchez-Iglesias S. Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant. Journal of Clinical Medicine. 2021; 10(7):1497. https://doi.org/10.3390/jcm10071497

Chicago/Turabian Style

Araújo-Vilar, David, Antía Fernández-Pombo, Berta Victoria, Adrián Mosquera-Orgueira, Silvia Cobelo-Gómez, Ana Castro-Pais, Álvaro Hermida-Ameijeiras, Lourdes Loidi, and Sofía Sánchez-Iglesias. 2021. "Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant" Journal of Clinical Medicine 10, no. 7: 1497. https://doi.org/10.3390/jcm10071497

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