Vascular placental abnormalities and newborn death in a pregnant diabetic woman with familial partial lipodystrophy type 3: a possible role for peroxisome proliferator-activated receptor γ

Diabetes & Metabolism
A L CastellP Fénichel

Abstract

The peroxisome proliferator-activated receptor protein gamma (PPARγ), a nuclear receptor involved in adipocyte differentiation, energy homoeostasis and fat storage, can lead, in rare cases of coding mutations, to familial partial lipodystrophy type 3 (FPLD3) with severe insulin resistance. PPARγ is also highly expressed in the syncytiotrophoblast and extravillous cytotrophoblast cells. It has a key role in trophoblast invasion, as shown by studies in vitro, but its precise role during placentation remains to be elucidated, and fetomaternal outcomes of FPLD3 pregnancies also need to be assessed. This report is of a novel missense heterozygous mutation of PPARγ identified during pregnancy in a young diabetic woman who, at 3weeks of amenorrhoea, prematurely delivered a baby who died 24 h later. Histopathological analysis revealed important vascular placental abnormalities. The presence of the PPARγ mutation in placental tissues in the absence of fetal malformations and maternal hypertension suggests that FPLP3 pregnancies may be at high-risk, especially if the fetus has inherited the mutation. It also supports a physiological role for PPARγ during placentation.

References

Feb 27, 2007·Placenta·T FournierD Evain-Brion
Mar 28, 2008·The Journal of Clinical Endocrinology and Metabolism·M C VantyghemJ L Wemeau
Sep 15, 2009·Trends in Endocrinology and Metabolism : TEM·Ellen H JeningaEric Kalkhoven
Sep 3, 2010·Endocrinology·Karim NadraBéatrice Desvergne
Apr 5, 2011·American Journal of Obstetrics and Gynecology·John C HauthUNKNOWN Eunice Kennedy Shriver National Institute of Child Health and Human Development Maternal-Fetal Medicine Units Network
Jun 28, 2011·Journal of Reproductive Immunology·Thierry FournierDanièle Evain-Brion

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