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Mitochondrial Donation — How Many Women Could Benefit? (Jan 2015)

 

nejm
Title:
Mitochondrial Donation — How Many Women Could Benefit?
Journal:
CORRESPONDENCE - January 28, 2015
Author(s):
Gráinne S. Gorman, M.D. John P. Grady, Ph.D. Yi Ng, M.D. Andrew M. Schaefer, M.D. Richard J. McNally, Ph.D. Patrick F. Chinnery, Ph.D. Patrick Yu-Wai-Man, Ph.D. Mary Herbert, Ph.D. Robert W. Taylor, Ph.D. Robert McFarland, Ph.D. Doug M. Turnbull, Ph.D.
Author(s) affiliation:
Newcastle University, Newcastle upon Tyne, UK
 

 

Short description:
Inherited mutations in mitochondrial DNA (mtDNA) are an important cause of genetic diseases for which there is no effective treatment. New techniques that are based on in vitro fertilization (IVF), including pronuclear and metaphase II spindle transfer,1,2 have the potential to prevent the transmission of serious mtDNA diseases. However, before these techniques are permitted in the United Kingdom, Parliament must agree to new regulations regarding enforcement of the Human Fertilisation and Embryology Act (1990). Central to the debate about the use of these IVF techniques is estimating how many women could potentially benefit from these procedures. This calculation depends on the prevalence of clinically relevant pathogenic mtDNA mutations in the population and the fertility of women with pathogenic mtDNA mutations.
Link to the journal




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