New hope for mitochondrial disease sufferers

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By Helen Albert, Senior medwireNews Reporter

medwireNews: Scientists have succeeded in replacing mitochondrial (mt) DNA in human oocytes, which they hope will lead to the procedure being developed for use in patients with mitochondrial diseases.

"The goal of this research is to develop a therapy to prevent transmission of these disease-causing gene mutations," said investigator Shoukhrat Mitalipov (Oregon Health and Science University, Portland, USA) in a press statement.

As reported in Nature, Mitalipov and colleagues managed to fertilize 73% of 65 donated oocytes that had undergone mtDNA transfer, known as spindle-chromosomal complex transfer (ST), although 52% of the ST oocytes showed signs of abnormal fertilization determined by having an abnormal number of pronuclei.

Of the ST oocytes that were fertilized normally, blastocyst development and embryonic stem cell isolation occurred in 62% and 38%, respectively; rates that were comparable to those of normal oocyte controls (n=33).

The team derived cell lines from the ST oocytes and found that all cells had normal euploid karyotypes and only contained donor mtDNA.

Mitalipov and co-investigators hope that their discovery could lead to the development of treatments for people with mitochondrial disorders, although they emphasize that the work is at an early stage and that further work in nonhuman primates is needed to optimize the protocols used and ensure that the procedure can be carried out safely.

"Using this process, we have shown that mutated DNA from the mitochondria can be replaced with healthy copies in human cells," explained Mitalipov.

"While the human cells in our study have only allowed us to develop to the embryonic stem cell stage, this research shows that this gene therapy method may well be a viable alternative for preventing devastating diseases passed from mother to infant."

The researchers say that the US Food and Drug Administration should review these developments, emphasizing that at present funding restrictions will need to be amended before any federally funded clinical trials can be undertaken.

Licensed from medwireNews with permission from Springer Healthcare Ltd. ©Springer Healthcare Ltd. All rights reserved. Neither of these parties endorse or recommend any commercial products, services, or equipment.


  1. carol Hoadley carol Hoadley United States says:

    Having a daughter with Kearns-Sayre Syndrome diagnose at age 16 at a time in her life when she was a perfectly healthy and beautuful cheer-leader in high school and also competeing in gymnastics, watching her slowly deteriate over the years but still became a coach at her high school and even teaching gymnastics to small children she has gone through 5 surgeries on her eyes and one on her throat to enable to speak and swallow she is continuing to show muscle weakness. To think as her mother I gave her that gene is times unbearable.We spent a month the NIH where she underwent brutal tests.Her corneas are ruined because of the inability to close her eyelids to protect them.She will hopefully be a candidate for a cornea transplant. I urge the government to continue the funding for research of mitochondrial diseases so no other families have to go through this heartbreaking experience.....Thank you

  2. Glen Glen Australia says:

    How does this help sufferers in future? Will they be replacing the mitochondrial DNA in the entire body?

  3. Souhaila Souhaila Lebanon says:

    Having lost my 1 year-40days old daughter due to this brutal disease; I surely hope that they find a cure. There's nothing more painful thanthe Dr. telling you that you will watch your child deteriorate in front of you and then die- and there's nothing to do about it.

The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of News Medical.
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