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Mitochondrial Replacement Techniques — Implications for the Clinical Community (Feb 2016)

nejm
Title:
Mitochondrial Replacement Techniques — Implications for the Clinical Community
Journal:
the New England Journal of Medicine: February 24, 2016DOI: 10.1056/NEJMp1600893
Author(s):
Marni J. Falk, M.D.1, Alan Decherney, M.D.1, Jeffrey P. Kahn, Ph.D., M.P.H.1
Author(s) affiliation:
1From the Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and the University of Pennsylvania Perelman School of Medicine, Philadelphia (M.J.F.); the National Institute of Child Health and Development, National Institutes of Health, Bethesda, MD (A.D.); and the Johns Hopkins Berman Institute of Bioethics, Johns Hopkins University, Baltimore (J.P.K.).
 

 

Short description:
Mitochondrial DNA (mtDNA) diseases may be the poster child for highly targeted, “personalized” medicine. These heterogeneous disorders, although rare individually, have well-defined genetic causes — more than 400 known pathogenic mutations or deletions in the 16,569-base-pair mitochondrial chromosome that contains only 37 genes. Affected persons may present at any age with some combination of severe, often progressive, and sometimes fatal neurologic, musculoskeletal, cardiac, gastrointestinal, renal, ophthalmologic, and audiologic involvement. No cures or therapies have been approved by the Food and Drug Administration (FDA) for any mtDNA disease, although symptom-based clinical management can be beneficial.
Link to the journal
 

 

Abstract taken from PubMed

Link to the paper on PubMed
 




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