Searchable abstracts of presentations at key conferences in endocrinology

ea0037ep342 | Diabetes (pathiophysiology & epitemiology) | ECE2015

Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor-γ mutation, H449L

Demir Tevfik , Onay Huseyin , Savage David B , Kuruuzum Ayse Kubat , Erdeve Senay Savas , Altay Canan , Ozen Samim , Demir Leyla , Cavdar Umit , Akinci Baris

Introduction: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterised by a selective lack of subcutaneous fat that is associated with insulin resistance and diabetes. FPL has been reported to be caused by mutations in the peroxisome proliferator activator receptor-γ (PPARG) gene, which encodes a key transcription factor that regulates adipocyte differentiation and insulin sensitivity.Material and methods: The objective of this ...