Banca de QUALIFICAÇÃO: MARIA DE FATIMA PAIVA BARACHO

Uma banca de QUALIFICAÇÃO de DOUTORADO foi cadastrada pelo programa.
DISCENTE: MARIA DE FATIMA PAIVA BARACHO
DATA: 26/10/2011
HORA: 09:00
LOCAL: Sala de Aula do PPGCSa, 2° andar do CCS
TÍTULO:

ASSOCIAÇÃO DE VARIANTES GENÉTICAS COM NÍVEIS LIPÍDICOS EM INDIVÍDUOS BRASILEIROS COM SÍNDROME DE BERARDINELLI-SEIP

PALAVRAS-CHAVES:

Berardinelli-Seip syndrome, simple nucleotide polymorphisms, dyslipedemia, insulin resistance

PÁGINAS: 23
GRANDE ÁREA: Ciências da Saúde
ÁREA: Medicina
RESUMO:

Purpose: The Berardinelli-Seip syndrome is a recessive autosomal genetic alteration, characterized by the near total loss of adipose tissue. Methods: Biochemical and hormonal parameters of 24 patients were analyzed, in addition to PPARy, LPL, RLDL, apolipoprotein CIII and adiponectin gene polymorphisms. Results: Parental consanguinity, insulin resistance and diabetes mellitus were observed in 66.7%, 83.3% and 54.2% of patients, respectively. All individuals presented with high triglyceride and 70.8% with high cholesterol levels. The Pro/Pro genotype of the Pro 12Ala PPARG2 polymorphism was found in 87.5% of patients. The Ala/Ala variant was not observed in any of them. With respect to the ADIPOQ gene, the CC, CG and GG genotype was found in 58.3%, 37.5% and 4.2% of patients, respectively. The APOC3 Sstl S1S1 polymorphism had a frequency of 41.7% for both CT and TT variants. In relation to the Pvull polymorphism of the LPL gene, the P1P2, P2P2 and P1P1 genotype was observed in 45.8%, 33.4% and 20.8% of patients, respectively. Conclusions: No association was found between lipid parameters and Pvull-LPL, Sst-APOC3 and avall-LDLR polymorphisms. However, we observed an associantion between ADIPOQ and PPARy2 PRO12Ala and higher lipid levels, suggesting a close relationship between these factors

MEMBROS DA BANCA:
Externo ao Programa - 1714243 - DANIELLA REGINA ARANTES MARTINS
Presidente - 1216686 - JOSE BRANDAO NETO
Externo ao Programa - 1674709 - VIVIANE SOUZA DO AMARAL