Banca de QUALIFICAÇÃO: ANA CAROLINA COSTA CAVALCANTE

Uma banca de QUALIFICAÇÃO de MESTRADO foi cadastrada pelo programa.
STUDENT : ANA CAROLINA COSTA CAVALCANTE
DATE: 17/11/2025
TIME: 14:00
LOCAL: Videoconferência
TITLE:

MOLECULAR CHARACTERIZATION OF A NOVEL PATHOGENIC VARIANT IN THE CAV1 GENE ASSOCIATED WITH CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 3

KEY WORDS:

adipose tissue, Berardinelli-Seip, caveolin-1, caveolae.

PAGES: 70
BIG AREA: Ciências Biológicas
AREA: Bioquímica
SUMMARY:

Congenital generalized lipodystrophy type 3 has been described as molecularly associated with the CAV1 gene. In general, this syndrome causes a generalized loss of subcutaneous adipose tissue, predominantly in the upper and lower limbs, and is usually accompanied by metabolic disorders such as type 2 diabetes mellitus, insulin resistance, hypertriglyceridemia, and hepatic complications. Therefore, the aim of this study was to molecularly diagnose patients with a clinical diagnosis of congenital generalized lipodystrophy type 3, recruited by Dr. Josivan Gomes de Lima, endocrinologist at the Hospital Universitário Onofre Lopes, as well as to perform bioinformatic analyses of the identified variant and compare it with other cases of this lipodystrophy previously reported in the literature. For this purpose, a clinical evaluation was conducted, and oral swab and blood samples were collected. Next-generation sequencing (NGS) was employed to identify the variant using a gene panel related to lipodystrophies. To confirm the NGS findings, conventional PCR amplification was performed using primers specifically designed for this study. The bioinformatic tools used for variant analysis were T-Coffee and MutationTaster. The patient exhibited clinical features consistent with lipodystrophy, such as generalized loss of adipose tissue in the extremities, abdominal enlargement due to hepatic complications, short stature, and low body weight. Molecular analysis identified and confirmed a novel homozygous variant leading to the complete loss of exon 3 of the CAV1 gene. This variant affects multiple critical regions of the protein, as exon 3 represents the largest functional domain of the gene. Through bioinformatic analysis of the identified variant and its comparative alignment with the wild-type sequence, the obtained scores were consistent with the clinical findings, classifying it as a pathogenic variant. This is the first study to molecularly characterize patients with congenital generalized lipodystrophy type 3 carrying a variant that results in the complete loss of exon 3, as reported in the global literature.

COMMITTEE MEMBERS:
Presidente - 1046922 - LEONARDO CAPISTRANO FERREIRA
Interno - 1880243 - DANIEL CARLOS FERREIRA LANZA
Externa ao Programa - 2477216 - NAISANDRA BEZERRA DA SILVA FARIAS - UFRN