Lipodistrofias relacionadas a variantes patogênicas do gene CAV1: uma análise fenotípica e genotípica de três tipos distintos

Lipodystrophies are a heterogeneous group of rare diseases. Their carriers present a reduced amount of subcutaneous white adipose tissue as the main symptom. However, they also experience systemic alterations similar to those seen in obesity-related metabolic syndrome, including type 2 diabetes mell...

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Autor principal: Cavalcante, Ana Carolina Costa
Outros Autores: Campos, Julliane Tamara Araújo de Melo
Formato: bachelorThesis
Idioma:pt_BR
Publicado em: Universidade Federal do Rio Grande do Norte
Assuntos:
CAV1
Caveolina-1
Lipodistrofia Generalizada Congênita do tipo 3
Lipodistrofia Parcial Familiar do tipo 7
Caveolin-1
Congenital generalized lipodystrophy type 3
Familial partial lipodystrophy type 7
CNPQ::CIENCIAS DA SAUDE
Endereço do item:https://repositorio.ufrn.br/handle/123456789/53824
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id ri-123456789-53824
record_format dspace
institution Repositório Institucional
collection RI - UFRN
language pt_BR
topic CAV1
Caveolina-1
Lipodistrofia Generalizada Congênita do tipo 3
Lipodistrofia Parcial Familiar do tipo 7
CAV1
Caveolin-1
Congenital generalized lipodystrophy type 3
Familial partial lipodystrophy type 7
CNPQ::CIENCIAS DA SAUDE
spellingShingle CAV1
Caveolina-1
Lipodistrofia Generalizada Congênita do tipo 3
Lipodistrofia Parcial Familiar do tipo 7
CAV1
Caveolin-1
Congenital generalized lipodystrophy type 3
Familial partial lipodystrophy type 7
CNPQ::CIENCIAS DA SAUDE
Cavalcante, Ana Carolina Costa
Lipodistrofias relacionadas a variantes patogênicas do gene CAV1: uma análise fenotípica e genotípica de três tipos distintos
description Lipodystrophies are a heterogeneous group of rare diseases. Their carriers present a reduced amount of subcutaneous white adipose tissue as the main symptom. However, they also experience systemic alterations similar to those seen in obesity-related metabolic syndrome, including type 2 diabetes mellitus, non-alcoholic fatty liver disease, hyperinsulinemia, and dyslipidemia. In some cases, these conditions can progress to more serious systemic complications. Lipodystrophies can be mainly classified into two large groups: congenital generalized lipodystrophies and familial partial lipodystrophies. Within these large groups, two types occur due to different mutations in the same gene, CAV1. These types are known as congenital generalized lipodystrophy type 3 and familial partial lipodystrophy type 7. Recently, a new type of lipodystrophy syndrome associated with neonatal progeroid syndrome has been classified involving a pathogenic variant in CAV1. This gene is responsible for encoding the protein caveolina-1, which plays a crucial role as an essential component of caveolae. They are small invaginations in the plasma membrane that have diverse functions in cell metabolism. Due to the rarity of this disease there have been limited studies correlating the genotypes and phenotypes observed in patients. Consequently, the understanding of how the structural changes caused by mutations in the caveolina-1 protein interfere with the metabolism of affected individuals remains limited. The objective of this study is to analyze the genotype and phenotype of patients who have been well-documented in the literature with these three different types of lipodystrophies, as well to understand the role of caveolina-1 and caveolae in metabolism.
author2 Campos, Julliane Tamara Araújo de Melo
author_facet Campos, Julliane Tamara Araújo de Melo
Cavalcante, Ana Carolina Costa
format bachelorThesis
author Cavalcante, Ana Carolina Costa
author_sort Cavalcante, Ana Carolina Costa
title Lipodistrofias relacionadas a variantes patogênicas do gene CAV1: uma análise fenotípica e genotípica de três tipos distintos
title_short Lipodistrofias relacionadas a variantes patogênicas do gene CAV1: uma análise fenotípica e genotípica de três tipos distintos
title_full Lipodistrofias relacionadas a variantes patogênicas do gene CAV1: uma análise fenotípica e genotípica de três tipos distintos
title_fullStr Lipodistrofias relacionadas a variantes patogênicas do gene CAV1: uma análise fenotípica e genotípica de três tipos distintos
title_full_unstemmed Lipodistrofias relacionadas a variantes patogênicas do gene CAV1: uma análise fenotípica e genotípica de três tipos distintos
title_sort lipodistrofias relacionadas a variantes patogênicas do gene cav1: uma análise fenotípica e genotípica de três tipos distintos
publisher Universidade Federal do Rio Grande do Norte
publishDate 2023
url https://repositorio.ufrn.br/handle/123456789/53824
work_keys_str_mv AT cavalcanteanacarolinacosta lipodistrofiasrelacionadasavariantespatogenicasdogenecav1umaanalisefenotipicaegenotipicadetrestiposdistintos
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spelling ri-123456789-538242023-07-19T18:55:24Z Lipodistrofias relacionadas a variantes patogênicas do gene CAV1: uma análise fenotípica e genotípica de três tipos distintos Cavalcante, Ana Carolina Costa Campos, Julliane Tamara Araújo de Melo 0009-0002-3114-830X https://lattes.cnpq.br/9399729120190753 https://orcid.org/0000-0002-8501-5521 http://lattes.cnpq.br/3504274193684794 Farias, Naissandra Bezerra da Silva http://lattes.cnpq.br/6590909272236189 Sarmento, Aquiles Sales Craveiro https://orcid.org/0000-0003-1207-830X http://lattes.cnpq.br/1484750470837853 CAV1 Caveolina-1 Lipodistrofia Generalizada Congênita do tipo 3 Lipodistrofia Parcial Familiar do tipo 7 CAV1 Caveolin-1 Congenital generalized lipodystrophy type 3 Familial partial lipodystrophy type 7 CNPQ::CIENCIAS DA SAUDE Lipodystrophies are a heterogeneous group of rare diseases. Their carriers present a reduced amount of subcutaneous white adipose tissue as the main symptom. However, they also experience systemic alterations similar to those seen in obesity-related metabolic syndrome, including type 2 diabetes mellitus, non-alcoholic fatty liver disease, hyperinsulinemia, and dyslipidemia. In some cases, these conditions can progress to more serious systemic complications. Lipodystrophies can be mainly classified into two large groups: congenital generalized lipodystrophies and familial partial lipodystrophies. Within these large groups, two types occur due to different mutations in the same gene, CAV1. These types are known as congenital generalized lipodystrophy type 3 and familial partial lipodystrophy type 7. Recently, a new type of lipodystrophy syndrome associated with neonatal progeroid syndrome has been classified involving a pathogenic variant in CAV1. This gene is responsible for encoding the protein caveolina-1, which plays a crucial role as an essential component of caveolae. They are small invaginations in the plasma membrane that have diverse functions in cell metabolism. Due to the rarity of this disease there have been limited studies correlating the genotypes and phenotypes observed in patients. Consequently, the understanding of how the structural changes caused by mutations in the caveolina-1 protein interfere with the metabolism of affected individuals remains limited. The objective of this study is to analyze the genotype and phenotype of patients who have been well-documented in the literature with these three different types of lipodystrophies, as well to understand the role of caveolina-1 and caveolae in metabolism. As lipodistrofias são um grupo heterogêneo de doenças raras em que seus portadores apresentam como sintoma principal uma quantidade reduzida de tecido adiposo branco subcutâneo, além de apresentarem alterações sistêmicas semelhantes a síndrome metabólica relacionada à obesidade, como diabetes mellitus do tipo 2, doença hepática gordurosa não alcoólica, hiperinsulinemia e dislipidemia, podendo progredir para quadros sistêmicos mais graves. Podem ser classificadas principalmente em dois grandes grupos, as lipodistrofias generalizadas congênitas e as lipodistrofias parciais familiares. Dentro desses grandes grupos, existem dois tipos que ocorrem devido a variantes patogênicas distintas no mesmo gene, CAV1, sendo elas a lipodistrofia generalizada congênita do tipo 3 e a lipodistrofia parcial familiar do tipo 7. Recentemente foi classificado um novo tipo de lipodistrofia que também apresenta variantes patogênicas nesse mesmo gene, chamada de nova síndrome de lipodistrofia associada a síndrome progeróide neonatal. Esse gene codifica a proteína caveolina-1, um importante componente das caveolas, pequenas invaginações na membrana plasmática com diversas funções no metabolismo celular. Por ser uma doença rara, existem poucos estudos que correlacionem os genótipos e fenótipos encontrados nos pacientes e pouco se sabe também como as mudanças estruturais ocasionadas na proteína caveolina-1 interferem no metabolismo desses pacientes. Esse trabalho visa analisar o genótipo e fenótipo de pacientes bem descritos na literatura com esses três tipos distintos de lipodistrofias, além de abordar sobre o papel da proteína caveolina-1 e das caveolas no metabolismo. 2023-07-19T18:55:23Z 2023-07-19T18:55:23Z 2023-06-26 bachelorThesis CAVALCANTE, Ana Carolina Costa. Lipodistrofias relacionadas a variantes patogênicas do gene CAV1: uma análise fenotípica e genotípica de três tipos distintos. Orientadora: Julliane Tamara Araújo de Melo Campos. 2023. 52 f. Monografia (Graduação em Biomedicina) – Centro de Biociências, Universidade Federal do Rio Grande do Norte, Natal, 2023. https://repositorio.ufrn.br/handle/123456789/53824 pt_BR Attribution 3.0 Brazil http://creativecommons.org/licenses/by/3.0/br/ application/pdf Universidade Federal do Rio Grande do Norte Brasil UFRN Biomedicina Centro de Biociências

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