Mitochondrial Donation — How Many Women Could Benefit?

Gorman, Gráinne; Grady, John P.; Ng, Yi Shiau; Schaefer, Andrew M.; McNally, Richard J.Q.; Chinnery, Patrick F.; Yu‐Wai‐Man, Patrick; Herbert, Mary; Taylor, Robert W.; McFarland, Robert; Turnbull, Doug M.

doi:10.1056/nejmc1500960

Cited by 87 publications

(34 citation statements)

References 8 publications

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“…Mitochondrial donation is the broad name for a novel in vitro fertilization-based technique that has the potential to prevent transmission of mitochondrial disease caused by an mtDNA mutation and could benefit ∼150 women each year in the United Kingdom (29). The technique involves removing the nuclear genome from an oocyte or zygote taken from a woman with an mtDNA mutation and transferring it to an enucleated oocyte or zygote from a healthy donor that has had its own nuclear genome removed.…”

Section: Mitochondrial Donationmentioning

confidence: 99%

Recent Advances in Mitochondrial Disease

Craven

Alston

Taylor

et al. 2017

Annu. Rev. Genom. Hum. Genet.

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237

198

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Mitochondrial disease is a challenging area of genetics because two distinct genomes can contribute to disease pathogenesis. It is also challenging clinically because of the myriad of different symptoms and, until recently, a lack of a genetic diagnosis in many patients. The last five years has brought remarkable progress in this area. We provide a brief overview of mitochondrial origin, function, and biology, which are key to understanding the genetic basis of mitochondrial disease. However, the primary purpose of this review is to describe the recent advances related to the diagnosis, genetic basis, and prevention of mitochondrial disease, highlighting the newly described disease genes and the evolving methodologies aimed at preventing mitochondrial DNA disease transmission.

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Section: Mitochondrial Donationmentioning

confidence: 99%

Recent Advances in Mitochondrial Disease

Craven

Alston

Taylor

et al. 2017

Annu. Rev. Genom. Hum. Genet.

Self Cite

237

198

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“…Furthermore, we must have in mind the utmost importance of the pursued aim, intrinsically linked to the principle of medical and scientific beneficence, or more properly to an idea of procreative beneficence, since the goal is to avoid the birth of children with severe and potentially fatal diseases (Gorman et al, 2015), with no plausible risk to the child (Anonymous, 2015). Doing nothing and allowing the birth of children so significantly impaired would be a violation of medical rules and legal basic principles.…”

Section: Non-medical Risksmentioning

confidence: 99%

Is Three a Crowd in Reproduction? (The Authorization of Mitochondrial Donation in the UK)

Raposo

2015

JBRA Assisted Reproduction

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Regulations recently passed in the UK to allow mitochondrial donation through artificial reproductive techniques have heated up the debate about this procedure, which in the near future may be extended to other parts of the world. Detractors of mitochondrial donation invoke the excessive risks inherent to the very novelty of the procedure and the lack of knowledge of its consequences. In the ethical and legal context, the main concerns relate to motherhood determination, the notion of social individuality, its association with genetic manipulation and all the issues accompanying it, the risk of opening the door to more dangerous practices, the potential discrimination toward existing individuals suffering with mitochondrial diseases, the fact that the same outcome -preventing the transmission of mitochondrial diseases -can be achieved by means of less risky procedures, and the modification of the genetic pool of humanity. However, most of the underlined risks are more uncertain than actual, and, indeed, natural to every new technique. Considering the major benefits offered by the procedure, and as long as we act under the auspices of the principles of precaution and prevention, there are no obstacles to the transference of mitochondrial material through artificial reproductive techniques.

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“…Siblings of MELAS patients could also choose to undergo genetic testing to determine if they are also affected. Advances in reproductive medicine such as mitochondrial replacement via pronuclear transfer or maternal spindle transfer hold promise for reducing the transmission of MELAS to subsequent generations [12].…”

Section: Introductionmentioning

confidence: 99%