The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field.
Int J Mol Sci
; 22(3)2021 Jan 29.
Article
em En
| MEDLINE
| ID: mdl-33572752
ABSTRACT
Fabry disease (FD) is a lysosomal storage disorder, depending on defects in alpha-galactosidase A (GAL) activity. At the clinical level, FD shows a high phenotype variability. Among them, cardiovascular dysfunction is often recurrent or, in some cases, is the sole symptom (cardiac variant) representing the leading cause of death in Fabry patients. The existing therapies, besides specific symptomatic treatments, are mainly based on the restoration of GAL activity. Indeed, mutations of the galactosidase alpha gene (GLA) cause a reduction or lack of GAL activity leading to globotriaosylceramide (Gb3) accumulation in several organs. However, several other mechanisms are involved in FD's development and progression that could become useful targets for therapeutics. This review discusses FD's cardiovascular phenotype and the last findings on molecular mechanisms that accelerate cardiac cell damage.
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Base de dados:
MEDLINE
Assunto principal:
Doenças Cardiovasculares
/
Doença de Fabry
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article