Este website utiliza cookies que facilitam a navegação, o registo e a recolha de dados estatísticos.
A informação armazenada nos cookies é utilizada exclusivamente pelo nosso websiteAo navegar com os cookies ativos consente a sua utiliza

Saber mais Aceitar Cookies

Molecular and cellular defects of cystatin B – from cell to population 

Investigador: Ana Joana Duarte
Instituição: Departamento de Genética – INSA, Porto

Este trabalho foca-se na caracterização mutacional do gene Cystatin B na população Portuguesa e identificação da distribuíção subcelular da Cystatin B em doentes com a doença de Unverricht-Lundborg, de modo a melhor compreender a sua patofisiologia.

Saiba mais

 

Ana Joana Duarte

Molecular and cellular defects of cystatin B – from cell to population.

Investigador: Ana Joana Duarte
Instituição: Departamento de Genética – INSA, Porto

   

Abstract

Cystatin B (Cstb) is a protein involved in several cellular processes including interaction with cysteine proteases, or cathepsins, which leak from lysosomes leading to a state of cellular dysfunction. It is also known that Cstb deficiency in mice can induce a secondary enhancement of tryptophan metabolism in the Central Nervous System, contributing to the epilepsy phenotype. Mutations on cystatin B gene (CSTB) are causal of Unverricht-Lundborg disease (EPM1) the most common cause of Progressive Myoclonic Epilepsy (PME). EPM1 is estimated to be underdiagnosed worldwide and the Portuguese population is no exception. Population characterization is important for genetic counseling and development of new therapeutic strategies in these diseases. The objectives of this work will be mutational characterization of CSTB lesions in the Portuguese population and identification of subcellular distribution of Cstb in patients and normal controls cell lines, in order to better understand the pathophysiology of disease. Along with the potential identification of new EPM1 patients, the concerted action with neurologists will help confirm putative diagnosis of this rare disease and provide their molecular analysis and subsequently allow genetic counseling in the appropriate cases. Cellular and molecular studies concerning the mechanism of Cstb involvement will be major objectives of this study.

 

CONTACTOS

Faculdade de Farmácia da U.L.
Av. Prof. Gama Pinto
1649-003 Lisboa
Portugal

Contacto: Fernanda Asper
Telefone.: +351 217 946 400
Fax: +351 217 946 491
spdm@ff.ul.pt


Newsletter

Subscreva a newsletter da SPDM - Sociedade Portuguesa de Doenças Metabólicas

Newsletter