Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report
<p>Abstract</p> <p>Introduction</p> <p>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.</p> <p>Case presentation</p> &l...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2008-08-01
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| Series: | Journal of Medical Case Reports |
| Online Access: | http://www.jmedicalcasereports.com/content/2/1/284 |
| _version_ | 1818485176890556416 |
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| author | Guallar Jordi P Rojas-Garcia Ricardo Garcia-Arumi Elena Domingo Joan C Gallardo Eduardo Andreu Antoni L Domingo Pere Illa Isabel Giralt Marta Villarroya Francesc |
| author_facet | Guallar Jordi P Rojas-Garcia Ricardo Garcia-Arumi Elena Domingo Joan C Gallardo Eduardo Andreu Antoni L Domingo Pere Illa Isabel Giralt Marta Villarroya Francesc |
| author_sort | Guallar Jordi P |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Introduction</p> <p>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.</p> <p>Case presentation</p> <p>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.</p> <p>Conclusion</p> <p>The expression of marker genes of adipogenesis and adipocyte metabolism, including the master regulator <it>PPARγ</it>, 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.</p> |
| first_indexed | 2024-12-10T16:05:03Z |
| format | Article |
| id | doaj.art-0daa87c46e7443f480d313ea98aa86bc |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-12-10T16:05:03Z |
| publishDate | 2008-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-0daa87c46e7443f480d313ea98aa86bc2022-12-22T01:42:17ZengBMCJournal of Medical Case Reports1752-19472008-08-012128410.1186/1752-1947-2-284Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case reportGuallar Jordi PRojas-Garcia RicardoGarcia-Arumi ElenaDomingo Joan CGallardo EduardoAndreu Antoni LDomingo PereIlla IsabelGiralt MartaVillarroya Francesc<p>Abstract</p> <p>Introduction</p> <p>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.</p> <p>Case presentation</p> <p>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.</p> <p>Conclusion</p> <p>The expression of marker genes of adipogenesis and adipocyte metabolism, including the master regulator <it>PPARγ</it>, 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.</p>http://www.jmedicalcasereports.com/content/2/1/284 |
| spellingShingle | Guallar Jordi P Rojas-Garcia Ricardo Garcia-Arumi Elena Domingo Joan C Gallardo Eduardo Andreu Antoni L Domingo Pere Illa Isabel Giralt Marta Villarroya Francesc Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report Journal of Medical Case Reports |
| title | Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report |
| title_full | Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report |
| title_fullStr | Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report |
| title_full_unstemmed | Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report |
| title_short | Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report |
| title_sort | impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy barraquer simons syndrome a case report |
| url | http://www.jmedicalcasereports.com/content/2/1/284 |
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