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

Béréziat, Véronique; Cervera, Pascale; Dour, Caroline Le; Verpont, Marie-Christine; Dumont, Sylvie; Vantyghem, Marie-Christine; Capeau, Jacqueline; Vigouroux, Corinne

doi:10.1016/j.ajpath.2011.07.049

Cited by 58 publications

(61 citation statements)

References 40 publications

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“…1C). These results confirmed similar findings reported by Béréziat et al (27). We then examined in cervical adipose tissue of the patient and five unaffected controls (22).…”

Section: Ecm Is Altered In Cervical Subcutaneous Adipose Tissue From supporting

confidence: 80%

“…Human subcutaneous adipose tissue samples were collected and prepared as described previously (27). Mouse subcutaneous adipose tissue samples were obtained after sacrifice.…”

Section: Histologymentioning

confidence: 99%

“…Considering the scarcity of subcutaneous adipose tissue from patients diagnosed with FPLD2, only a few studies have focused on the histological alterations in affected human tissue. Béréziat et al described a significant increase in fibrosis with accumulation of collagen fibrils in hypertrophic cervical adipose tissue from patients with LMNArelated lipodystrophies (27). In contrast, one study of perilipomatous adipose tissue from lipoatrophic fat of patients with FPLD2 reported a near-normal histological phenotype (28).…”

Section: Cell Culturementioning

confidence: 99%

“…Features of the control subjects and patient have been described previously (13,27,32). These features, and the subjects from whom adipose tissue sections or adipose tissue RNA were available, are summarized in Table 1.…”

Section: Ecm Is Altered In Cervical Subcutaneous Adipose Tissue From mentioning

confidence: 99%

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Extracellular matrix remodeling and transforming growth factor-β signaling abnormalities induced by lamin A/C variants that cause lipodystrophy

Dour

Béréziat

et al. 2017

Journal of Lipid Research

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“…1C). These results confirmed similar findings reported by Béréziat et al (27). We then examined in cervical adipose tissue of the patient and five unaffected controls (22).…”

Section: Ecm Is Altered In Cervical Subcutaneous Adipose Tissue From supporting

confidence: 80%

“…Human subcutaneous adipose tissue samples were collected and prepared as described previously (27). Mouse subcutaneous adipose tissue samples were obtained after sacrifice.…”

Section: Histologymentioning

confidence: 99%

Section: Cell Culturementioning

confidence: 99%

Section: Ecm Is Altered In Cervical Subcutaneous Adipose Tissue From mentioning

confidence: 99%

See 2 more Smart Citations

Extracellular matrix remodeling and transforming growth factor-β signaling abnormalities induced by lamin A/C variants that cause lipodystrophy

Dour

Béréziat

et al. 2017

Journal of Lipid Research

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“…For example, they can have an iatrogenic origin, as in HIV patients treated with protease inhibitors. Most molecules of this class inhibit ZMPSTE24 function, resulting in the blockage of prelamin A maturation and its accumulation in nuclei, leading to clinical manifestations of lipodystrophy syndrome (Béréziat et al., 2011; Caron et al., 2007; Coffinier et al., 2008; Miranda et al., 2007). …”

Section: Lamins and 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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Genetics of Lipodystrophies

Vigouroux

Bidault

Capeau

2013

Encyclopedia of Life Sciences

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Human genetic lipodystrophic syndromes are rare conditions with total or partial body fat loss, severe lipid and glucose alterations and insulin resistance, leading to early diabetes, cardiovascular and hepatic complications. Most generalised forms, recessively inherited, result from mutations in four proteins, mainly 1‐acylglycerol‐3‐phosphate‐O‐acyltransferase‐2 (AGPAT2) involved in triglyceride synthesis, or seipin involved in the adipocyte lipid droplet formation/maintenance but also in caveolin‐1 and cavin‐1/polymerase I and transcript release factor, expressed in caveolae and at the lipid droplet surface. Partial lipodystrophic syndromes, generally dominantly inherited, mainly involve A‐type lamins ( LMNA) , forming the nuclear lamina, or the adipogenic transcription factor peroxisome proliferator‐activated‐receptor‐gamma. Less frequently Akt2, in the insulin signalling pathway, perilipin and cell‐death‐inducing‐DFF45‐like‐effector‐C, controlling adipocyte triglyceride storage, are affected. Insulin resistance and lipodystrophy can also be present in genetic syndromes of premature ageing as the Hutchinson–Gilford progeria or mandibuloacral dysplasia ( LMNA or ZMPSTE24 ) and the Werner syndrome (affecting the helicase WRN). Patients’ management is difficult and recombinant human leptin treatment could be helpful. Key Concepts: Adipose tissue releases a number of factors and hormones and plays an important physiological role, only recently considered. Genetic lipodystrophic syndromes are a heterogeneous group of diseases with lipoatrophy either generalised or partial. The very limited fat expansion seen in lipodystrophies results in severe metabolic alterations and early complications as a result of fat overwhelming by nutriments. Partial lipodystrophies due to a single gene mutation associate both fat hypertrophy and fat atrophy, stressing for the differential physiology of differently located fat depots. A number of genetic lipodystrophies affect proteins involved in lipid droplet function, which stresses the underrecognised role of lipid droplet in adipocyte physiology. The transcription factor PPARγ plays important roles in adipogenesis but also at the level of the vascular wall. Mutations in the gene encoding lamin A/C result in a wide range of diseases collectively called laminopathies. Human recombinant leptin can improve the metabolic alterations present in lipodystrophic patients with a low leptin level.

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

Cited by 58 publications

References 40 publications

Extracellular matrix remodeling and transforming growth factor-β signaling abnormalities induced by lamin A/C variants that cause lipodystrophy

Extracellular matrix remodeling and transforming growth factor-β signaling abnormalities induced by lamin A/C variants that cause lipodystrophy

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies

Genetics of Lipodystrophies

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