Anderson–Fabry Disease: From Endothelial Dysfunction to Emerging Therapies
The Anderson–Fabry disease is a rare, X-linked, multisystemic, progressive lysosomal storage disease caused by α-galactosidase A total or partial deficiency. The resulting syndrome is mainly characterized by early-onset autonomic neuropathy and life-threatening multiorgan involvement, including rena...
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| Format: | Article |
| Language: | English |
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Wiley
2021-01-01
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| Series: | Advances in Pharmacological and Pharmaceutical Sciences |
| Online Access: | http://dx.doi.org/10.1155/2021/5548445 |
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| author | Cosimo A. Stamerra Rita Del Pinto Paolo di Giosia Claudio Ferri Amirhossein Sahebkar |
| author_facet | Cosimo A. Stamerra Rita Del Pinto Paolo di Giosia Claudio Ferri Amirhossein Sahebkar |
| author_sort | Cosimo A. Stamerra |
| collection | DOAJ |
| description | The Anderson–Fabry disease is a rare, X-linked, multisystemic, progressive lysosomal storage disease caused by α-galactosidase A total or partial deficiency. The resulting syndrome is mainly characterized by early-onset autonomic neuropathy and life-threatening multiorgan involvement, including renal insufficiency, heart disease, and early stroke. The enzyme deficiency leads to tissue accumulation of the glycosphingolipid globotriaosylceramide and its analogues, but the mechanisms linking such accumulation to organ damage are only partially understood. In contrast, enzyme replacement and chaperone therapies are already fully available to patients and allow substantial amelioration of quality and quantity of life. Substrate reduction, messenger ribonucleic acid (mRNA)-based, and gene therapies are also on the horizon. In this review, the clinical scenario and molecular aspects of Anderson–Fabry disease are described, along with updates on disease mechanisms and emerging therapies. |
| format | Article |
| id | doaj-art-a3afd51029b1412e9ce5735fb133dfb3 |
| institution | Kabale University |
| issn | 2633-4690 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Advances in Pharmacological and Pharmaceutical Sciences |
| spelling | doaj-art-a3afd51029b1412e9ce5735fb133dfb32025-02-03T06:45:45ZengWileyAdvances in Pharmacological and Pharmaceutical Sciences2633-46902021-01-01202110.1155/2021/55484455548445Anderson–Fabry Disease: From Endothelial Dysfunction to Emerging TherapiesCosimo A. Stamerra0Rita Del Pinto1Paolo di Giosia2Claudio Ferri3Amirhossein Sahebkar4University of L’Aquila, Department of Life, Health and Environmental Sciences, Building Delta 6-San Salvatore Hospital, Via Vetoio, Coppito, L’Aquila 67100, ItalyUniversity of L’Aquila, Department of Life, Health and Environmental Sciences, Building Delta 6-San Salvatore Hospital, Via Vetoio, Coppito, L’Aquila 67100, ItalyUniversity of L’Aquila, Department of Life, Health and Environmental Sciences, Building Delta 6-San Salvatore Hospital, Via Vetoio, Coppito, L’Aquila 67100, ItalyUniversity of L’Aquila, Department of Life, Health and Environmental Sciences, Building Delta 6-San Salvatore Hospital, Via Vetoio, Coppito, L’Aquila 67100, ItalyBiotechnology Research Center, Pharmaceutical Technology Institute, Mashhad University of Medical Sciences, Mashhad, IranThe Anderson–Fabry disease is a rare, X-linked, multisystemic, progressive lysosomal storage disease caused by α-galactosidase A total or partial deficiency. The resulting syndrome is mainly characterized by early-onset autonomic neuropathy and life-threatening multiorgan involvement, including renal insufficiency, heart disease, and early stroke. The enzyme deficiency leads to tissue accumulation of the glycosphingolipid globotriaosylceramide and its analogues, but the mechanisms linking such accumulation to organ damage are only partially understood. In contrast, enzyme replacement and chaperone therapies are already fully available to patients and allow substantial amelioration of quality and quantity of life. Substrate reduction, messenger ribonucleic acid (mRNA)-based, and gene therapies are also on the horizon. In this review, the clinical scenario and molecular aspects of Anderson–Fabry disease are described, along with updates on disease mechanisms and emerging therapies.http://dx.doi.org/10.1155/2021/5548445 |
| spellingShingle | Cosimo A. Stamerra Rita Del Pinto Paolo di Giosia Claudio Ferri Amirhossein Sahebkar Anderson–Fabry Disease: From Endothelial Dysfunction to Emerging Therapies Advances in Pharmacological and Pharmaceutical Sciences |
| title | Anderson–Fabry Disease: From Endothelial Dysfunction to Emerging Therapies |
| title_full | Anderson–Fabry Disease: From Endothelial Dysfunction to Emerging Therapies |
| title_fullStr | Anderson–Fabry Disease: From Endothelial Dysfunction to Emerging Therapies |
| title_full_unstemmed | Anderson–Fabry Disease: From Endothelial Dysfunction to Emerging Therapies |
| title_short | Anderson–Fabry Disease: From Endothelial Dysfunction to Emerging Therapies |
| title_sort | anderson fabry disease from endothelial dysfunction to emerging therapies |
| url | http://dx.doi.org/10.1155/2021/5548445 |
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