Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. Some laminopathies affect the cardiovascular system, and a few (namely, Dunnigan-type familial partial lipodystrophy [FPLD2] and Hutchinson-Gilford progeria syndrome [HGPS]) feature atherosclerosis as a key component. The premature atherosclerosis of FPLD2 is probably related to characteristic proatherogenic metabolic disturbances such as dyslipidemia, hyperinsulinemia, hypertension, and diabetes. In contrast, the premature atherosclerosis of HGPS occurs with less exposure to metabolic proatherogenic traits and probably reflects the generalized process of accelerated aging in HGPS. Although some common polymorphisms of LMNA have been associated with traits related to atherosclerosis, the monogenic diseases FPLD2 and HGPS are more likely to provide clues about new pathways for the general process of atherosclerosis. Dunnigan-type familial partial lipodystrophy and Hutchinson-Gilford progeria syndrome are laminopathies caused by mutation in LMNA that feature atherosclerosis, which is related to proatherogenic metabolic disturbances and to the generalized process of accelerated aging, respectively. These monogenic diseases may provide clues about new pathways for atherogenesis.
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http://dx.doi.org/10.1161/01.ATV.0000136392.59656.8b | DOI Listing |
Turk Kardiyol Dern Ars
March 2024
Department of Cardiology, Medipol University, Istanbul, Türkiye.
A 45-year-old female patient was admitted to the emergency department with syncope. Her medical history revealed a diagnosis of Familial Partial Lipodystrophy 2 (FPLD2). The patient's electrocardiogram showed a complete atrioventricular (A-V) block, and she had a history of insulin-dependent diabetes mellitus and coronary artery bypass surgery.
View Article and Find Full Text PDFCells
April 2023
Department of Biochemistry and Molecular Biology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Mutations in the gene cause a collection of diseases known as laminopathies, including muscular dystrophies, lipodystrophies, and early-onset aging syndromes. The gene encodes A-type lamins, lamins A/C, intermediate filaments that form a meshwork underlying the inner nuclear membrane. Lamins have a conserved domain structure consisting of a head, coiled-coil rod, and C-terminal tail domain possessing an Ig-like fold.
View Article and Find Full Text PDFDiabetes Res Clin Pract
February 2021
Department of Internal Medicine, Division of Endocrinology, Diabetes & Metabolism, Saint Louis University School of Medicine, United States.
Familial partiallipodystrophy (FPLD)is a rare disorder associated withsevere insulin resistance, hypertriglyceridemia, lowserumHDLcholesterol and proteinuricrenaldisease. Although proteinuric renal disease is not common among in patients with partial lipodystrophy, we report a patient with Dunnigan type FPLD complicated by nephrotic syndrome which resolved following treatment with thePPARγagonist pioglitazone, CPAP, diet, and exercise.
View Article and Find Full Text PDFAACE Clin Case Rep
September 2020
Heart Failure and Transplant Unit, St. Vincent's Hospital, Sydney, Australia.
Objective: Everolimus, a mammalian target-ofrapamycin (mTOR) inhibitor, is increasingly used post-transplantation due to favorable effects on renal function and malignancy risk when compared to other immunosuppressive treatments such as calcineurin inhibitors. However, it can confer adverse effects such as dyslipidemia, which is not underpinned by any long-term screening and management of dyslipidemia in heart transplant recipients treated with everolimus.
Methods: We report a case of severe hypertriglyceridemia which developed after commencement of everolimus in a heart transplant recipient with a background of Dunnigan-type familial partial lipodystrophy.
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