Development of a Safe and Effective Protocol for Mitochondrial Replacement

HIGHLIGHTS FROM THE AMERICAN SOCIETY FOR REPRODUCTIVE MEDICINE’S 2017 SCIENTIFIC CONGRESS & EXPO

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San Antonio, TX-  Today at the American Society for Reproductive Medicine’s Scientific Congress and Expo, Dr. Dieter Egli and his team from Columbia University shared their work directed to creating an optimized standard protocol for Mitochondrial Replacement (MR) Therapy which can ultimately be used safely in clinical practice to prevent the transmission of life-threatening mitochondrial disorders.

In the study’s research arm, fresh and cryopreserved eggs from healthy donors underwent MR according to the lab’s standard protocol (enucleation, nuclear transfer and ICSI).  Eggs were evaluated the next day for fertilization and again after five days for embryo development. All resulting embryos and cell lines were tested using PCR for mitochondrial heteroplasmy- to determine to what degree they contained their original or replacement mitochondria.

In the clinical arm of the study, patients with known mitochondrial mutations will provide oocytes which will undergo MR using the standard protocol with haplotype-matched donor oocytes (oocytes from donors with the same mitochondrial lineage). Resulting embryos will be cultured to blastocyst, then biopsied to test for chromosomal abnormalities and mitochondrial heteroplasmy.

“Mutations in mitochondrial DNA, which are only inherited from one’s mother, can cause life-threatening dysfunction in children. Mitochondrial replacement therapy will allow a woman carrying this type of dangerous mutation to use her own eggs- passing her own genetics on to her child- but substituting healthy donated mitochondria for her own,” said Christos Coutifaris, MD, PhD, President Elect of ASRM.  “To move this technique from the research lab to clinical practice, safety and effectiveness must be proven. Dr. Egli and his team are anticipating problems that may occur in MRT and testing for them- a responsible way to proceed and, I hope, a successful one.”

P-126  Fischer et al, TOWARD CLINICAL USE OF MITOCHONDRIAL REPLACEMENT THERAPY.

 

ASRM is a multidisciplinary organization dedicated to the advancement of the science and practice of reproductive medicine. The Society accomplishes its mission through the pursuit of excellence in education and research and through advocacy on behalf of patients, physicians, and affiliated health care providers. The Society is committed to facilitating and sponsoring educational activities for the lay public and continuing medical education activities for professionals who are engaged in the practice of and research in reproductive medicine. www.asrm.org 


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