The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field
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) represent...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-01-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/22/3/1331 |
| _version_ | 1797406136137154560 |
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| author | Daniela Sorriento Guido Iaccarino |
| author_facet | Daniela Sorriento Guido Iaccarino |
| author_sort | Daniela Sorriento |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T03:21:58Z |
| format | Article |
| id | doaj.art-e0f7e7085500404bb3ac138fbddc34da |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T03:21:58Z |
| publishDate | 2021-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-e0f7e7085500404bb3ac138fbddc34da2023-12-03T15:09:54ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-01-01223133110.3390/ijms22031331The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research FieldDaniela Sorriento0Guido Iaccarino1Department of Advanced Biomedical Sciences, Federico II University, Via Pansini 5, 80131 Naples, ItalyDepartment of Advanced Biomedical Sciences, Federico II University, Via Pansini 5, 80131 Naples, ItalyFabry 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.https://www.mdpi.com/1422-0067/22/3/1331fabrylysosomal disordercardiovascular diseaseinflammationmitochondrial dysfunction |
| spellingShingle | Daniela Sorriento Guido Iaccarino The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field International Journal of Molecular Sciences fabry lysosomal disorder cardiovascular disease inflammation mitochondrial dysfunction |
| title | The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field |
| title_full | The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field |
| title_fullStr | The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field |
| title_full_unstemmed | The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field |
| title_short | The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field |
| title_sort | cardiovascular phenotype in fabry disease new findings in the research field |
| topic | fabry lysosomal disorder cardiovascular disease inflammation mitochondrial dysfunction |
| url | https://www.mdpi.com/1422-0067/22/3/1331 |
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