Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy

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dc.contributor.authorAkinci, Baris
dc.contributor.authorOnay, Huseyin
dc.contributor.authorDemir, Tevfik
dc.contributor.authorSavas-Erdeve, Senay
dc.contributor.authorGen, Ramazan
dc.contributor.authorSimsir, Ilgin Yildirim
dc.contributor.authorKeskin, Fatma Ela
dc.contributor.authorErturk, Mehmet Sercan
dc.contributor.authorUzum, Ayse Kubat
dc.contributor.authorYaylali, Guzin Fidan
dc.contributor.authorOzdemir, Nilufer Kutbay
dc.contributor.authorAtik, Tahir
dc.contributor.authorOzen, Samim
dc.contributor.authorYurekli, Banu Sarer
dc.contributor.authorApaydin, Tugce
dc.contributor.authorAltay, Canan
dc.contributor.authorAkinci, Gulcin
dc.contributor.authorDemir, Leyla
dc.contributor.authorComlekci, Abdurrahman
dc.contributor.authorSecil, Mustafa
dc.contributor.authorOral, Elif Arioglu
dc.date.accessioned2019-10-27T11:07:16Z
dc.date.available2019-10-27T11:07:16Z
dc.date.issued2017
dc.departmentEge Üniversitesien_US
dc.description.abstractObjective. Familial partial lipodystrophy (FPLD) is a rare genetic disorder characterized by partial lack of subcutaneous fat. Methods. This multicenter prospective observational study included data from 56 subjects with FPLD (18 independent Turkish families). Thirty healthy controls were enrolled for comparison. Results. Pathogenic variants of the LMNA gene were determined in nine families. Of those, typical exon 8 codon 482 pathogenic variants were identified in four families. Analysis of the LMNA gene also revealed exon 1 codon 47, exon 5 codon 306, exon 6 codon 349, exon 9 codon 528, and exon 11 codon 582 pathogenic variants. Analysis of the PPARG gene revealed exon 3 p.Y151C pathogenic variant in two families and exon 7 p.H477L pathogenic variant in one family. A non-pathogenic exon 5 p.R215Qvariant of the LMNB2 gene was detected in another family. Five other families harbored no mutation in any of the genes sequenced. MRI studies showed slightly different fat distribution patterns among subjects with different point mutations, though it was strikingly different in subjects with LMNA p.R349W pathogenic variant. Subjects with pathogenic variants of the PPARG gene were associated with less prominent fat loss and relatively higher levels of leptin compared to those with pathogenic variants in the LMNA gene. Various metabolic abnormalities associated with insulin resistance were detected in all subjects. End-organ complications were observed. Conclusion. We have identified various pathogenic variants scattered throughout the LMNA and PPARG genes in Turkish patients with FPLD. Phenotypic heterogeneity is remarkable in patients with LMNA pathogenic variants related to the site of missense mutations. FPLD, caused by pathogenic variants either in LMNA or PPARG is associated with metabolic abnormalities associated with insulin resistance that lead to increased morbidity. (C) 2017 Elsevier Inc. All rights reserved.en_US
dc.description.sponsorshipTuLip; National Institutes of Health (NIH)United States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [RO-1DK88114]en_US
dc.description.sponsorshipThis work is funded by the TuLip. EAO was partially supported by National Institutes of Health (NIH) grant RO-1DK88114.en_US
dc.identifier.doi10.1016/j.metabol.2017.04.010en_US
dc.identifier.endpage119en_US
dc.identifier.issn0026-0495
dc.identifier.issn1532-8600
dc.identifier.pmid28641778en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage109en_US
dc.identifier.urihttps://doi.org/10.1016/j.metabol.2017.04.010
dc.identifier.urihttps://hdl.handle.net/11454/32002
dc.identifier.volume72en_US
dc.identifier.wosWOS:000404316600012en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherW B Saunders Co-Elsevier Incen_US
dc.relation.ispartofMetabolism-Clinical and Experimentalen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectDiabetesen_US
dc.subjectInsulin resistanceen_US
dc.subjectLipodystrophyen_US
dc.subjectLMNAen_US
dc.subjectPPARGen_US
dc.titleClinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophyen_US
dc.typeArticleen_US

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