Banca de DEFESA: MARIA DE FATIMA PAIVA BARACHO
Uma banca de DEFESA de DOUTORADO foi cadastrada pelo programa.DISCENTE: MARIA DE FATIMA PAIVA BARACHO
DATA: 20/03/2013
HORA: 08:00
LOCAL: CONSEC - CCS
TÍTULO:
SNPs of PPAR-γ2, LPL, LDLR, APOC3, and adiponectin genes modulating the lipid profile of patients with Berardinelli-Seip syndrome
PALAVRAS-CHAVES:
Lipodystrophy, dyslipidemia, insulin resistance, leptin, PPAR-γ2, adiponectin
PÁGINAS: 20
GRANDE ÁREA: Ciências da Saúde
ÁREA: Medicina
RESUMO:
The Berardinelli-Seip syndrome is a recessive autosomal genetic alteration, characterized by the near total loss of adipose tissue. Biochemical and hormonal parameters of twenty-four patients with Berardinelli-Seip syndrome were analyzed, in addition to PPAR-γ2, LPL, LDLR, APOC3 and adiponectin gene polymorphisms. Parental consanguinity, insulin resistance and diabetes mellitus were observed in 66.7%, 83.3% and 54.2% of patients, respectively. All individuals presented high triglyceride and 70.8% high cholesterol levels. The Pro/Pro genotype of the Pro12Ala polymorphism of the PPAR-γ2 gene was found in 87.5% of patients. The Ala/Ala variant was not observed in any of them. The PvuII polymorphism of the LPL gene showed a frequency of 45.8% for P1P2 variant. AvaII polymorphism of the LDLR gene showed a similar frequency of 41.7% for both CT and TT variants. The S1S1 genotype of the Sstl polymorphism of the APOC3 gene had a frequency of 79.1%. The ADIPOQ polymorphism of the adiponectin gene, CC genotype was found in 58.3% of patients. No association was found between lipid parameters and PvuII, AvaII, and SstT polymorphisms. However, we observed an association between Pro12Ala and ADIPOQ polymorphisms and higher lipid levels, suggesting a close relationship between these factors.
MEMBROS DA BANCA:
Presidente - 1216686 - JOSE BRANDAO NETO
Externo ao Programa - 1714243 - DANIELLA REGINA ARANTES MARTINS SALHA
Externo à Instituição - ALCIDES DA SILVA DINIZ - UFPE
Externo à Instituição - NEIDMAR DA MATA - UnP
Externo à Instituição - PAULA FRASSINETTI VASCONCELOS DE MEDEIROS - UFCG