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


METHODS
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.


CONCLUSIONS
The expression of marker genes of adipogenesis and adipocyte metabolism, including the master regulator PPARgamma, 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.
Guallar
Jordi P
JP
Departament de Bioquímica i Biologia Molecular and Institut de Biomedicina (IBUB), Universitat de Barcelona, and CIBER Fisiopatologia Obesidad y Nutrición, Instituto de Salud Carlos III, Avda Diagonal 645, 08028, Barcelona, Spain. jordi.gualler@gmail.com
Rojas-Garcia
Ricardo
R
Garcia-Arumi
Elena
E
Domingo
Joan C
JC
Gallardo
Eduardo
E
Andreu
Antoni L
AL
Domingo
Pere
P
Illa
Isabel
I
Giralt
Marta
M
Villarroya
Francesc
F