Preimplantation genetic testing for familial amyloid polyneuropathy
Abstract Background Embryo selection in Familial amyloid polyneuropathy eradicates the disease, but the widespread application of preimplantation genetic testing (PGT) for this monogenic disease still requires greater political and clinical commitment. Main body Familial amyloid polyneuropathy is a...
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| Format: | Article |
| Language: | English |
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BMC
2022-11-01
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| Series: | Reproductive Health |
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| Online Access: | https://doi.org/10.1186/s12978-022-01491-x |
| _version_ | 1811319568662003712 |
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| author | Mário Sousa |
| author_facet | Mário Sousa |
| author_sort | Mário Sousa |
| collection | DOAJ |
| description | Abstract Background Embryo selection in Familial amyloid polyneuropathy eradicates the disease, but the widespread application of preimplantation genetic testing (PGT) for this monogenic disease still requires greater political and clinical commitment. Main body Familial amyloid polyneuropathy is a fatal, chronic, hereditary autosomal dominant neurodegenerative disorder caused by a single nucleotide mutation in the transthyretin gene. The disease courses with infertility, cachexia, blindness, renal failure, cardiovascular collapse, and premature death. Treatments include organ transplantation, transthyretin stabilizers, silencers and gene editing. Unfortunately, these treatments only improve the patient’s quality of life. Short conclusion The application of PGT would prevent the disease, the birth of children with this devastating disease and the enormous health costs associated. For PGT to become the first reproductive option for patients, a paradigm shift in governmental, social and medical policies is necessary. |
| first_indexed | 2024-04-13T12:45:14Z |
| format | Article |
| id | doaj.art-0f233dc9ce5d41c4ac49de5cc24a209a |
| institution | Directory Open Access Journal |
| issn | 1742-4755 |
| language | English |
| last_indexed | 2024-04-13T12:45:14Z |
| publishDate | 2022-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Reproductive Health |
| spelling | doaj.art-0f233dc9ce5d41c4ac49de5cc24a209a2022-12-22T02:46:23ZengBMCReproductive Health1742-47552022-11-011911310.1186/s12978-022-01491-xPreimplantation genetic testing for familial amyloid polyneuropathyMário Sousa0Laboratory of Cell Biology, Department of Microscopy, ICBAS-School of Medicine and Biomedical Sciences, UMIB-Unit for Multidisciplinary Research in Biomedicine, ITR-Laboratory for Integrative and Translational Research in Population Health, University of PortoAbstract Background Embryo selection in Familial amyloid polyneuropathy eradicates the disease, but the widespread application of preimplantation genetic testing (PGT) for this monogenic disease still requires greater political and clinical commitment. Main body Familial amyloid polyneuropathy is a fatal, chronic, hereditary autosomal dominant neurodegenerative disorder caused by a single nucleotide mutation in the transthyretin gene. The disease courses with infertility, cachexia, blindness, renal failure, cardiovascular collapse, and premature death. Treatments include organ transplantation, transthyretin stabilizers, silencers and gene editing. Unfortunately, these treatments only improve the patient’s quality of life. Short conclusion The application of PGT would prevent the disease, the birth of children with this devastating disease and the enormous health costs associated. For PGT to become the first reproductive option for patients, a paradigm shift in governmental, social and medical policies is necessary.https://doi.org/10.1186/s12978-022-01491-xPreimplantation genetic testingFamilial amyloidosisTransthyretinInfertilityDisease prevention |
| spellingShingle | Mário Sousa Preimplantation genetic testing for familial amyloid polyneuropathy Reproductive Health Preimplantation genetic testing Familial amyloidosis Transthyretin Infertility Disease prevention |
| title | Preimplantation genetic testing for familial amyloid polyneuropathy |
| title_full | Preimplantation genetic testing for familial amyloid polyneuropathy |
| title_fullStr | Preimplantation genetic testing for familial amyloid polyneuropathy |
| title_full_unstemmed | Preimplantation genetic testing for familial amyloid polyneuropathy |
| title_short | Preimplantation genetic testing for familial amyloid polyneuropathy |
| title_sort | preimplantation genetic testing for familial amyloid polyneuropathy |
| topic | Preimplantation genetic testing Familial amyloidosis Transthyretin Infertility Disease prevention |
| url | https://doi.org/10.1186/s12978-022-01491-x |
| work_keys_str_mv | AT mariosousa preimplantationgenetictestingforfamilialamyloidpolyneuropathy |