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Three-parent babies: Mitochondrial replacement therapies

The mitochondria are intracellular organelles, and just like the cell nucleus they have their own genome. They are extremely important for normal body functioning and are responsible for ATP production - the main energy source for the cell. Mitochondrial diseases are associated with mutations in mit...

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Autores principales: Farnezi, Hana Carolina Moreira, Goulart, Ana Carolina Xavier, dos Santos, Adriana, Ramos, Mariana Gontijo, Penna, Maria Lectícia Firpe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Brazilian Society of Assisted Reproduction 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7169912/
https://www.ncbi.nlm.nih.gov/pubmed/32073245
http://dx.doi.org/10.5935/1518-0557.20190086
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author Farnezi, Hana Carolina Moreira
Goulart, Ana Carolina Xavier
dos Santos, Adriana
Ramos, Mariana Gontijo
Penna, Maria Lectícia Firpe
author_facet Farnezi, Hana Carolina Moreira
Goulart, Ana Carolina Xavier
dos Santos, Adriana
Ramos, Mariana Gontijo
Penna, Maria Lectícia Firpe
author_sort Farnezi, Hana Carolina Moreira
collection PubMed
description The mitochondria are intracellular organelles, and just like the cell nucleus they have their own genome. They are extremely important for normal body functioning and are responsible for ATP production - the main energy source for the cell. Mitochondrial diseases are associated with mutations in mitochondrial DNA and are inherited exclusively from the mother. They can affect organs that depend on energy metabolism, such as skeletal muscles, the cardiac system, the central nervous system, the endocrine system, the retina and liver, causing various incurable diseases. Mitochondrial replacement techniques provide women with mitochondrial defects a chance to have normal biological children. The goal of such treatment is to reconstruct functional oocytes and zygotes, in order to avoid the inheritance of mutated genes; for this the nuclear genome is withdrawn from an oocyte or zygotes, which carries mitochondrial mutations, and is implanted in a normal anucleated cell donor. Currently, the options of a couple to prevent the transmission of mitochondrial diseases are limited, and mitochondrial donation techniques provide women with mitochondrial defects a chance to have normal children. The nuclear genome can be transferred from oocytes or zygotes using techniques such as pronuclear transfer, spindle transfer, polar body transfer and germinal vesicle transfer. This study presents a review of developed mitochondrial substitution techniques, and its ability to prevent hereditary diseases.
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spelling pubmed-71699122020-04-24 Three-parent babies: Mitochondrial replacement therapies Farnezi, Hana Carolina Moreira Goulart, Ana Carolina Xavier dos Santos, Adriana Ramos, Mariana Gontijo Penna, Maria Lectícia Firpe JBRA Assist Reprod Review The mitochondria are intracellular organelles, and just like the cell nucleus they have their own genome. They are extremely important for normal body functioning and are responsible for ATP production - the main energy source for the cell. Mitochondrial diseases are associated with mutations in mitochondrial DNA and are inherited exclusively from the mother. They can affect organs that depend on energy metabolism, such as skeletal muscles, the cardiac system, the central nervous system, the endocrine system, the retina and liver, causing various incurable diseases. Mitochondrial replacement techniques provide women with mitochondrial defects a chance to have normal biological children. The goal of such treatment is to reconstruct functional oocytes and zygotes, in order to avoid the inheritance of mutated genes; for this the nuclear genome is withdrawn from an oocyte or zygotes, which carries mitochondrial mutations, and is implanted in a normal anucleated cell donor. Currently, the options of a couple to prevent the transmission of mitochondrial diseases are limited, and mitochondrial donation techniques provide women with mitochondrial defects a chance to have normal children. The nuclear genome can be transferred from oocytes or zygotes using techniques such as pronuclear transfer, spindle transfer, polar body transfer and germinal vesicle transfer. This study presents a review of developed mitochondrial substitution techniques, and its ability to prevent hereditary diseases. Brazilian Society of Assisted Reproduction 2020 /pmc/articles/PMC7169912/ /pubmed/32073245 http://dx.doi.org/10.5935/1518-0557.20190086 Text en http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review
Farnezi, Hana Carolina Moreira
Goulart, Ana Carolina Xavier
dos Santos, Adriana
Ramos, Mariana Gontijo
Penna, Maria Lectícia Firpe
Three-parent babies: Mitochondrial replacement therapies
title Three-parent babies: Mitochondrial replacement therapies
title_full Three-parent babies: Mitochondrial replacement therapies
title_fullStr Three-parent babies: Mitochondrial replacement therapies
title_full_unstemmed Three-parent babies: Mitochondrial replacement therapies
title_short Three-parent babies: Mitochondrial replacement therapies
title_sort three-parent babies: mitochondrial replacement therapies
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7169912/
https://www.ncbi.nlm.nih.gov/pubmed/32073245
http://dx.doi.org/10.5935/1518-0557.20190086
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