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Open Access 01-12-2008 | Case report

Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report

Authors: Jordi P Guallar, Ricardo Rojas-Garcia, Elena Garcia-Arumi, Joan C Domingo, Eduardo Gallardo, Antoni L Andreu, Pere Domingo, Isabel Illa, Marta Giralt, Francesc Villarroya

Published in: Journal of Medical Case Reports | Issue 1/2008

Abstract

Introduction

Acquired partial lipodystrophy or Barraquer-Simons syndrome is a rare form of progressive lipodystrophy. The etiopathogenesis of adipose tissue atrophy in these patients is unknown.

Case presentation

This is a case report of a 44-year-old woman with acquired partial lipodystrophy. To obtain insight into the molecular basis of lipoatrophy in acquired partial lipodystrophy, we examined gene expression in adipose tissue from this patient newly diagnosed with acquired partial lipodystrophy. A biopsy of subcutaneous adipose tissue was obtained from the patient, and DNA and RNA were extracted in order to evaluate mitochondrial DNA abundance and mRNA expression levels.

Conclusion

The expression of marker genes of adipogenesis and adipocyte metabolism, including the master regulator PPARγ, was down-regulated in subcutaneous adipose tissue from this patient. Adiponectin mRNA expression was also reduced but leptin mRNA levels were unaltered. Markers of local inflammatory status were unaltered. Expression of genes related to mitochondrial function was reduced despite unaltered levels of mitochondrial DNA. It is concluded that adipogenic and mitochondrial gene expression is impaired in adipose tissue in this patient with acquired partial lipodystrophy.

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Title: Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report
Authors: Jordi P Guallar
Ricardo Rojas-Garcia
Elena Garcia-Arumi
Joan C Domingo
Eduardo Gallardo
Antoni L Andreu
Pere Domingo
Isabel Illa
Marta Giralt
Francesc Villarroya
Publication date: 01-12-2008
Publisher: BioMed Central
Published in: Journal of Medical Case Reports / Issue 1/2008
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/1752-1947-2-284

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Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report

Abstract

Introduction

Case presentation

Conclusion

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Introduction

Case presentation

Conclusion

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