Clinical Research Directory

Investigation of the Treatment of Patients With Mitochondrial Defects by Assisted Reproductive Technology

Sponsor: Taipei Fertility Center

Summary

Mitochondria are important organelles that generate energy (ATP) in human and mammalian cells. Currently, there are more than 50 kinds of diseases known to be related to mitochondrial defects in Taiwan. The incidence of mitochondrial diseases is very rare, about 1/5,000 to 1/10,000. The abundancy of mitochondria riches to 100,000 DNA copies in one oocyte, and the threshold of DNA mutation rate to cause pathogenicity is usually greater than 70%. Since mitochondria are inherited maternally, the pathogenic mitochondrial DNA in oocytes could be removed by modern artificial reproductive technology (ART). By treating with mitochondria replacement therapy (MRT), here we use the spindle transfer, following artificial insemination, the ooplasm from healthy donor oocytes could be transferred into the oocytes of patients to remove defected mitochondria, therefore creating the opportunity to produce healthy offspring. Therefore, in order to further detect the carrying rate of mutated mitochondrial genes in patients with mitochondrial defects after MRT, we aim to detect the mitochondria mutation in germ cells of patients in order to improve the specificity and operation procedures of this therapy.

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