Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy

Araújo‐Vilar, David; Lattanzi, Giovanna; González-Méndez, Blanca; Costa-Freitas, Ana Teresa; Prieto, Daniel; Columbaro, Marta; Mattioli, Elisabetta; Victoria, Berta; Martínez-Sánchez, Noelia; Рамазанова, А. Р.; Fraga, Máximo; Beiras, A.; Forteza, Jerónimo; Domínguez-Gerpe, Lourdes; Calvo, Carlos; Lado-Abeal, Joaquín

doi:10.1136/jmg.2008.059485

Cited by 45 publications

(53 citation statements)

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“…In contrast to data previously reported in lipoatrophic areas from patients with LMNA mutations, 20 we did not detect ultrastructural alterations in the nucleus architecture of cervical adipocytes in the patients with LMNA mutations (data not shown).…”

Section: Patient Cervical Adipose Tissue Presents a Dystrophic Phenotcontrasting

confidence: 57%

“…Insofar as lipoatrophy, in patients with LMNA mutations or who received HIV antiretroviral therapy, it has been proposed that it could result from altered expression of adipogenic factors, 10,20 premature cellular aging, 11,26 mitochondrial alterations with oxidative stress 11,14,15 , and low-grade adipose tissue inflammation. 25 However, to date, the pathophysiology of increased cervical fat in partial lipodystrophies has not been defined.…”

Section: Discussionmentioning

confidence: 99%

“…Thus far, histologic features of LMNA-mutated scAT have not been reported, with the exception of an ultrastructural analysis that revealed nuclear alterations in some lipoatrophic adipocytes. 20 In the present work, we studied alterations of enlarged cervical adipose tissue from patients with LMNA mutations at the histologic, immunohistologic, ultrastructural, and protein expression levels. These fat samples were compared with buffalo humps from HIV-infected patients, treated or not with protease inhibitors, with cervical lipomas due to mtDNA mutations and with cervical fat from control subjects.…”

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confidence: 99%

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LMNA Mutations Induce a Non-Inflammatory Fibrosis and a Brown Fat-Like Dystrophy of Enlarged Cervical Adipose Tissue

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et al. 2011

The American Journal of Pathology

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Section: Patient Cervical Adipose Tissue Presents a Dystrophic Phenotcontrasting

confidence: 57%

Section: Discussionmentioning

confidence: 99%

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confidence: 99%

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LMNA Mutations Induce a Non-Inflammatory Fibrosis and a Brown Fat-Like Dystrophy of Enlarged Cervical Adipose Tissue

Béréziat

Cervera

Dour

et al. 2011

The American Journal of Pathology

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“…The autosomal‐dominant Dunnigan‐type familial partial lipodystrophy (FPLD2, OMIM: #151660) is characterized by an abnormal subcutaneous adipose tissue distribution, with a loss of subcutaneous adipose tissue from the trunk, buttocks, and limbs, and fat accumulation in the neck and face. Metabolic complications, such as diabetes mellitus, insulin resistance, hypertriglyceridemia, premature atherosclerosis, and cardiovascular events, are usually observed (Araújo‐Vilar et al., 2009; Shackleton et al., 2000). Oldenburg et al.…”

Section: Mirnas In Hereditary Laminopathiesmentioning

confidence: 99%

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies

et al. 2018

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SummaryHereditary and sporadic laminopathies are caused by mutations in genes encoding lamins, their partners, or the metalloprotease ZMPSTE24/FACE1. Depending on the clinical phenotype, they are classified as tissue‐specific or systemic diseases. The latter mostly manifest with several accelerated aging features, as in Hutchinson–Gilford progeria syndrome (HGPS) and other progeroid syndromes. MicroRNAs are small noncoding RNAs described as powerful regulators of gene expression, mainly by degrading target mRNAs or by inhibiting their translation. In recent years, the role of these small RNAs has become an object of study in laminopathies using in vitro or in vivo murine models as well as cells/tissues of patients. To date, few miRNAs have been reported to exert protective effects in laminopathies, including miR‐9, which prevents progerin accumulation in HGPS neurons. The recent literature has described the potential implication of several other miRNAs in the pathophysiology of laminopathies, mostly by exerting deleterious effects. This review provides an overview of the current knowledge of the functional relevance and molecular insights of miRNAs in laminopathies. Furthermore, we discuss how these discoveries could help to better understand these diseases at the molecular level and could pave the way toward identifying new potential therapeutic targets and strategies based on miRNA modulation.

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“…Еще одна семья с семейной парциальной ЛД и СД вследствие той же мутации (R482W в гене LMNA) описана в 2009 г. D. Araujo-Vilar и соавт. [9].…”

Section: рис 3 генеалогическое древо семьи хunclassified

Familial partial lipodystrophy (Dunnigan syndrome) due to LMNA gene mutation: The first description of its clinical case in Russia

et al. 2015

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Наследственные липодистрофии (НЛД) представляют гете-рогенную группу редких заболеваний (приблизительная распро-страненность 1:1 000 000 населения, официальная статистика от-сутствует), характеризующихся полной или частичной потерей подкожной жировой клетчатки, а также ее неправильным рас-пределением. В зависимости от степени потери подкожного жира выделяют генерализованные и парциальные липодистрофии (ЛД). Для семейных парциальных ЛД характерно развитие мета-болических нарушений: сахарного диабета (СД) с выраженной инсулинорезистентностью, дислипидемии, стеатоза печени, ар-териальной гипертонии, синдрома поликистозных яичников. Наиболее частой причиной парциальной ЛД является вариант ламинопатий, семейная парциальная ЛД 2-го типа (FPLD2), или синдром Dunnigan. ЗАМЕТКИ ИЗ ПРАКТИКИ АннотацияНаследственные липодистрофии (НЛД) представляют собой гетерогенную группу редких заболеваний, характеризующихся полной или частичной потерей подкожной жировой клетчатки, а также развитием метаболических нарушений: сахарного диабета с выраженной инсулинорезистентностью и acanthosis nigricans, дислипидемии, стеатоза печени, артериальной гипертонии, синдрома поликистозных яичников. Наиболее частой причиной парциальной липодистрофии (ЛД) является вариант ламинопатий, семейная парциальная ЛД 2-го типа (FPLD2), или синдром Dunnigan. Описана семья (3 клинических случая) с FPLD2, обусловленной гетерозиготной миссенс-мутацией R482W в гене, кодирующем белок ламин A/C (LMNA; 150330). Это наблюдение демонстрирует необходимость увеличения осведомленности специалистов о данном заболевании и своевременно установленного диагноза в случаях сочетания выраженных метаболических нарушений в молодом возрасте, что способствует более эффективному лечению пациентов и проведению медико-генетического консультирования их семей. Ключевые слова: липодистрофия, LMNA, инсулинорезистентность, сахарный диабет, acanthosis nigricans.Hereditary lipodystrophies (HLD) are a heterogeneous group of rare diseases characterized by a complete or partial loss of subcutaneous fat and by the development of metabolic disturbances: diabetes mellitus with obvious insulin resistance and acanthosis nigricans, dyslipidemia, hepatic steatosis, hypertension, and polycystic ovary syndrome. The laminopathy variant familial partial lipodystrophy type 2 or Dunnigan syndrome (FPLD2) is the most common cause of partial LD. The paper describes a family (3 clinical cases) with FPLD2 caused by heterozygous R482W missense mutations in the gene encoding the protein lamin A/C (LMNA; 150330). This observation demonstrates that specialists should be more aware of this disease and make a timely diagnose in cases of concurrent severe metabolic disturbances at a young age, which contributes to more effective treatment of patients and to medical genetic counseling of their families. Описание клинического случая Пациентка Х. впервые обратилась в клинику эндокриноло-гии Первого МГМУ им. И.М. Сеченова в возрасте 20 лет по пово-ду стойкой декомпенсации СД с жалобами на выраженную сла-бость, постоянную...

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Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy

Abstract: In FPLD2 participants, prelamin A accumulation in peripheral scAT is associated with a reduced expression of several genes involved in adipogenesis, which could perturb the balance between proliferation and differentiation in adipocytes, leading to less efficient tissue regeneration.

Cited by 45 publications

References 54 publications

LMNA Mutations Induce a Non-Inflammatory Fibrosis and a Brown Fat-Like Dystrophy of Enlarged Cervical Adipose Tissue

LMNA Mutations Induce a Non-Inflammatory Fibrosis and a Brown Fat-Like Dystrophy of Enlarged Cervical Adipose Tissue

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies

Familial partial lipodystrophy (Dunnigan syndrome) due to LMNA gene mutation: The first description of its clinical case in Russia

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