Hana Carolina Moreira Farnezi, Ana Carolina Xavier Goulart, Adriana dos Santos, Mariana Gontijo Ramos, Maria Lectícia Penna
JBRA Assist. Reprod. 2020; 24 (2):189-196
Received April 05, 2019
Accepted October 20, 2019
Abstract
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 mu- tations 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 sys- tem, the retina and liver, causing various incurable diseas- es. Mitochondrial replacement techniques provide women with mitochondrial defects a chance to have normal bio- logical children. The goal of such treatment is to recon- struct functional oocytes and zygotes, in order to avoid the inheritance of mutated genes; for this the nuclear ge- nome is withdrawn from an oocyte or zygotes, which car- ries mitochondrial mutations, and is implanted in a normal anucleated cell donor.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 nor- mal 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.