{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T13:22:08Z","timestamp":1790688128962,"version":"4.1.0"},"reference-count":54,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2009,1]]},"abstract":"<jats:sec>\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>Type 2 familial partial lipodystrophy (FPLD2) is characterised by loss of fat in the limbs and buttocks and results from mutations in the <jats:italic>LMNA<\/jats:italic> gene.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Aim:<\/jats:title>\n                  <jats:p>To evaluate the role of several genes involved in adipogenesis in order to better understand the underlying mechanisms of regional loss of subcutaneous adipose tissue (scAT) in patients with FPLD2.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods:<\/jats:title>\n                  <jats:p>In total, 7 patients with FPLD2 and 10 healthy control participants were studied. A minimal model was used to calculate the insulin sensitivity (IS). scAT was obtained from abdomen and thigh by biopsy. Relative gene expression was quantified by real-time reverse transcription PCR in a thermal cycler. Prelamin A western blot analysis was carried out on scAT and prelamin A nuclear localisation was determined using immunofluorescence. Adipocyte nuclei were examined by electron microscopy.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>Patients with FPLD2 were found to have significantly lower IS. The expression of <jats:italic>LMNA<\/jats:italic> was similar in both groups. The expression of <jats:italic>PPARG2,<\/jats:italic> \n                     <jats:italic>RB1<\/jats:italic>, <jats:italic>CCND3<\/jats:italic> and <jats:italic>LPL<\/jats:italic> in thigh but not in abdomen scAT was significantly reduced (67%, 25%, 38% and 66% respectively) in patients with FPLD2. Significantly higher levels of prelamin A were found in peripheral scAT of patients with FPLD2. Defects in the peripheral heterochromatin and a nuclear fibrous dense lamina were present in the adipocytes of patients with FPLD2.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions:<\/jats:title>\n                  <jats:p>In FPLD2 participants, prelamin A accumulation in peripheral scAT is associated with a reduced expression of several genes involved in adipogenesis<jats:italic>,<\/jats:italic> which could perturb the balance between proliferation and differentiation in adipocytes, leading to less efficient tissue regeneration.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2008.059485","type":"journal-article","created":{"date-parts":[[2008,9,19]],"date-time":"2008-09-19T20:24:42Z","timestamp":1221855882000},"page":"40-48","source":"Crossref","is-referenced-by-count":45,"title":["Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial 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