Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -? (PPARG) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A/C (LMNA) mutations

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dc.contributor.authorDemir T.
dc.contributor.authorOnay H.
dc.contributor.authorSavage D.B.
dc.contributor.authorTemeloglu E.
dc.contributor.authorUzum A.K.
dc.contributor.authorKadioglu P.
dc.contributor.authorAltay C.
dc.contributor.authorOzen S.
dc.contributor.authorDemir L.
dc.contributor.authorCavdar U.
dc.contributor.authorAkinci B.
dc.date.accessioned2019-10-27T08:20:26Z
dc.date.available2019-10-27T08:20:26Z
dc.date.issued2016
dc.departmentEge Üniversitesien_US
dc.description.abstractAims: To describe the phenotype associated with a novel heterozygous missense PPARG mutation discovered in a Turkish family and to compare the fat distribution and metabolic characteristics of subjects with the peroxisome proliferator activator receptor -? (PPARG) mutation with those of a cluster of patients with familial partial lipodystrophy with classic codon 482 Lamin A/C (LMNA) mutations. Methods: The study involved four subjects with familial partial lipodystrophy who had a novel PPARG mutation (H449L) and six subjects with classic codon 482 LMNA mutations (R482W). Results: Compared with subjects with LMNA R482W mutation, fat loss was generally less prominent in subjects with the PPARG H449L mutation. Partial fat loss was limited to the extremities, whilst truncal fat mass was preserved. The PPARG H449L mutation was associated with insulin resistance, hypertriglyceridaemia and non-alcoholic fatty liver disease in all affected subjects, but the severity was variable. Three out of four mutation carriers had overt diabetes or impaired glucose tolerance. Pioglitazone therapy in these three individuals resulted in a modest improvement in their metabolic control, and regular menstrual cycles in the two female subjects. Conclusions: We suggest that relatively modest fat loss in patients with PPARG mutations may render the recognition of the syndrome more difficult in routine clinical practice. The PPARG H449L mutation is associated with insulin resistance and metabolic complications, but their severity is variable among the affected subjects. © 2016 Diabetes UKen_US
dc.identifier.doi10.1111/dme.13061en_US
dc.identifier.endpage1450en_US
dc.identifier.issn0742-3071
dc.identifier.issue10en_US
dc.identifier.pmid26756202en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage1445en_US
dc.identifier.urihttps://doi.org/10.1111/dme.13061
dc.identifier.urihttps://hdl.handle.net/11454/25658
dc.identifier.volume33en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherBlackwell Publishing Ltden_US
dc.relation.ispartofDiabetic Medicineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.titleFamilial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -? (PPARG) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A/C (LMNA) mutationsen_US
dc.typeArticleen_US

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