Abstract:
AIMS:Familial partial lipodystrophy (FPLD) is a rare autosomal dominant disorder, mostly due to mutations in lamin A (LMNA) or in peroxisome proliferator-activated receptor gamma (PPARG) genes. In the present study, we aimed to identify and functionally characterize the genetic defect underlying FPLD in an Italian family presenting with several affected individuals in three consecutive generations. METHODS:Mutational screening by direct Sanger sequencing has been carried out on both LMNA and PPARG genes. In silico analyses and functional in vitro studies on transfected cell lines have been also performed to evaluate the biological impact of the identified mutation. RESULTS:We identified a novel PPARG missense mutation (i.e., PPARγ2 Ile354Val) segregating with FPLD in the study family. In silico analyses and in vitro experiments showed that probably altering the PPARγ2 ligand binding domain conformation, the Ile354Val aminoacid change leads to a significant reduction (i.e., ~ 30-35%) of transcriptional activity in the mutant receptor, with no evidences of a dominant negative effect on the wild-type receptor. CONCLUSIONS:Our present data extend the spectrum of PPARG mutations responsible for FPLD3 and reinforce the notion that even loss of function mutations affecting transcriptional activity to an extent lower than that observed in the case of haploinsufficiency are able to cause a severe FPLD3 phenotype.
journal_name
Acta Diabetoljournal_title
Acta diabetologicaauthors
Padova G,Prudente S,Vinciguerra F,Sudano D,Baratta R,Bellacchio E,Trischitta V,Vallone A,Sciacca L,Frittitta Ldoi
10.1007/s00592-019-01462-ysubject
Has Abstractpub_date
2020-05-01 00:00:00pages
589-596issue
5eissn
0940-5429issn
1432-5233pii
10.1007/s00592-019-01462-yjournal_volume
57pub_type
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pub_type: 杂志文章,评审
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pub_type: 杂志文章,评审
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更新日期:2002-04-01 00:00:00
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pub_type: 杂志文章
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更新日期:2017-08-01 00:00:00
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