The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms
Vascular anomalies (VAs) are morphogenesis defects of the vascular system (arteries, capillaries, veins, lymphatic vessels) singularly or in complex combinations, sometimes with a severe impact on the quality of life. The progress made in recent years with the identification of the key molecular pat...
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| Format: | Article |
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MDPI AG
2022-10-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/23/20/12199 |
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| author | Lăcrămioara Ionela Butnariu Eusebiu Vlad Gorduza Laura Florea Elena Țarcă Ștefana Maria Moisă Laura Mihaela Trandafir Simona Stoleriu Minerva Codruța Bădescu Alina-Costina Luca Setalia Popa Iulian Radu Elena Cojocaru |
| author_facet | Lăcrămioara Ionela Butnariu Eusebiu Vlad Gorduza Laura Florea Elena Țarcă Ștefana Maria Moisă Laura Mihaela Trandafir Simona Stoleriu Minerva Codruța Bădescu Alina-Costina Luca Setalia Popa Iulian Radu Elena Cojocaru |
| author_sort | Lăcrămioara Ionela Butnariu |
| collection | DOAJ |
| description | Vascular anomalies (VAs) are morphogenesis defects of the vascular system (arteries, capillaries, veins, lymphatic vessels) singularly or in complex combinations, sometimes with a severe impact on the quality of life. The progress made in recent years with the identification of the key molecular pathways (PI3K/AKT/mTOR and RAS/BRAF/MAPK/ERK) and the gene mutations that lead to the appearance of VAs has allowed the deciphering of their complex genetic architecture. Understanding these mechanisms is critical both for the correct definition of the phenotype and classification of VAs, as well as for the initiation of an optimal therapy and the development of new targeted therapies. The purpose of this review is to present in synthesis the current data related to the genetic factors involved in the etiology of VAs, as well as the possible directions for future research. We analyzed the data from the literature related to VAs, using databases (Google Scholar, PubMed, MEDLINE, OMIM, MedGen, Orphanet) and ClinicalTrials.gov. The obtained results revealed that the phenotypic variability of VAs is correlated with genetic heterogeneity. The identification of new genetic factors and the molecular mechanisms in which they intervene, will allow the development of modern therapies that act targeted as a personalized therapy. We emphasize the importance of the geneticist in the diagnosis and treatment of VAs, as part of a multidisciplinary team involved in the management of VAs. |
| first_indexed | 2024-03-09T20:07:06Z |
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| id | doaj.art-c61ec932963f492e86a0b7fc984efecb |
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| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T20:07:06Z |
| publishDate | 2022-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-c61ec932963f492e86a0b7fc984efecb2023-11-24T00:29:10ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-10-0123201219910.3390/ijms232012199The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular MechanismsLăcrămioara Ionela Butnariu0Eusebiu Vlad Gorduza1Laura Florea2Elena Țarcă3Ștefana Maria Moisă4Laura Mihaela Trandafir5Simona Stoleriu6Minerva Codruța Bădescu7Alina-Costina Luca8Setalia Popa9Iulian Radu10Elena Cojocaru11Department of Medical Genetics, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaDepartment of Medical Genetics, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaDepartment of Nefrology–Internal Medicine, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaDepartment of Surgery II—Pediatric Surgery, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Mother and Child Medicine-Pediatrics, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Mother and Child Medicine-Pediatrics, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaFaculty of Dental Medicine, Odontology-Periodontology, Fixed Prosthesis Department, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaDepartment of Internal Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, RomaniaDepartment of Mother and Child Medicine-Pediatrics, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Medical Genetics, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaDepartment of Surgery, Regional Institute of Oncology, I-st Surgical Oncology, “Grigore T. Popa” University of Medicine and Pharmacy, 700483 Iasi, RomaniaDepartment of Morphofunctional Sciences I—Pathology, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaVascular anomalies (VAs) are morphogenesis defects of the vascular system (arteries, capillaries, veins, lymphatic vessels) singularly or in complex combinations, sometimes with a severe impact on the quality of life. The progress made in recent years with the identification of the key molecular pathways (PI3K/AKT/mTOR and RAS/BRAF/MAPK/ERK) and the gene mutations that lead to the appearance of VAs has allowed the deciphering of their complex genetic architecture. Understanding these mechanisms is critical both for the correct definition of the phenotype and classification of VAs, as well as for the initiation of an optimal therapy and the development of new targeted therapies. The purpose of this review is to present in synthesis the current data related to the genetic factors involved in the etiology of VAs, as well as the possible directions for future research. We analyzed the data from the literature related to VAs, using databases (Google Scholar, PubMed, MEDLINE, OMIM, MedGen, Orphanet) and ClinicalTrials.gov. The obtained results revealed that the phenotypic variability of VAs is correlated with genetic heterogeneity. The identification of new genetic factors and the molecular mechanisms in which they intervene, will allow the development of modern therapies that act targeted as a personalized therapy. We emphasize the importance of the geneticist in the diagnosis and treatment of VAs, as part of a multidisciplinary team involved in the management of VAs.https://www.mdpi.com/1422-0067/23/20/12199vascular anomaliessignaling pathwaysomatic mutationgermline mutationsecond-hit mutation |
| spellingShingle | Lăcrămioara Ionela Butnariu Eusebiu Vlad Gorduza Laura Florea Elena Țarcă Ștefana Maria Moisă Laura Mihaela Trandafir Simona Stoleriu Minerva Codruța Bădescu Alina-Costina Luca Setalia Popa Iulian Radu Elena Cojocaru The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms International Journal of Molecular Sciences vascular anomalies signaling pathway somatic mutation germline mutation second-hit mutation |
| title | The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms |
| title_full | The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms |
| title_fullStr | The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms |
| title_full_unstemmed | The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms |
| title_short | The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms |
| title_sort | genetic architecture of vascular anomalies current data and future therapeutic perspectives correlated with molecular mechanisms |
| topic | vascular anomalies signaling pathway somatic mutation germline mutation second-hit mutation |
| url | https://www.mdpi.com/1422-0067/23/20/12199 |
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