Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report
Open Access
- 27 August 2008
- journal article
- Published by Springer Science and Business Media LLC in Journal of Medical Case Reports
- Vol. 2 (1), 284
- https://doi.org/10.1186/1752-1947-2-284
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 regulatorPPARγ, 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.Keywords
This publication has 20 references indexed in Scilit:
- Altered expression of master regulatory genes of adipogenesis in lipomas from patients bearing tRNALys point mutations in mitochondrial DNAMolecular Genetics and Metabolism, 2006
- Sequencing of the Reannotated LMNB2 Gene Reveals Novel Mutations in Patients with Acquired Partial LipodystrophyAmerican Journal of Human Genetics, 2006
- Laminopathies: Multisystem dystrophy syndromesMolecular Genetics and Metabolism, 2006
- Assessment of Adipokine Expression and Mitochondrial Toxicity in HIV Patients With Lipoatrophy on Stavudine- and Zidovudine-Containing RegimensJAIDS Journal of Acquired Immune Deficiency Syndromes, 2005
- Lipodystrophy associated with highly active anti-retroviral therapy for HIV infection: the adipocyte as a target of anti-retroviral-induced mitochondrial toxicityTrends in Pharmacological Sciences, 2005
- Lessons from human mutations in PPARγInternational Journal of Obesity, 2005
- Increased systemic and adipose tissue cytokines in patients with HIV-associated lipodystrophyAmerican Journal of Physiology-Endocrinology and Metabolism, 2004
- Clinical Features and Metabolic and Autoimmune Derangements in Acquired Partial LipodystrophyMedicine, 2004
- Two new cases of Barraquer–Simons syndromeAmerican Journal of Medical Genetics Part A, 2003
- The Retinoblastoma-Histone Deacetylase 3 Complex Inhibits PPARγ and Adipocyte DifferentiationDevelopmental Cell, 2002