Request to Join
has invited you to join this group
has invited you to join this group
Robert Henry Levi and Ryda Hecht Levi Professor of Bioethics and Public Policy at Johns Hopkins Berman Institute of Bioethics
Clinical Geneticist at Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA
Professor, Department of Neurology and Cell Biology at University of Miami Leonard M. Miller School of Medicine
Pediatrician, Neonatal (NICU) hospitalist, Medical Biochemical Geneticist, Clinical Geneticist, Co-Director of Pediatric Integrative Medicine (PIM) Residency program, Stanford Children's Hospital & Stanford University, California, USA
Member, Senate of the Dutch Parliament, Associate Professor of Medical Ethics at University Medical Center Utrecht
Director, OHSU Oocyte Donation Program, Associate Professor at Oregon Health & Science University
Professor and Canada Research Chair in Bioethics and Philosophy, Dalhousie University, CANADA
Genetic Counselor, Study Coordinator, Department of Neurology at Columbia University in the City of New York
Professor of Clinical Genomics of Mitochondrial Diseases, Director of the Genome Center, at Maastricht University
Research Associate, Centre of Medical Law and Ethics, The Dickson Poon School of Law at King's College London
Research Associate at Wellcome Trust Centre for Mitochondrial Research, Newcastle University
Professor of Mitochondrial Genetics, Nuffield Department of Obstetrics and Gynecology
Research Assistant Professor, Dr. J.T. Macdonald Foundation Department of Human Genetics, Institute for Bioethics and Health Policy, John P. Hussman Institute for Human Genomics, and Interdisciplinary Stem Cell Institute at University of Miami Miller School of Medicine
Laboratory of Pediatric Infectious Diseases, Radboud Institute for Molecular Life Sciences at Radboud University Medical Center
Resident in Obstetrics and Gynecology at Obstetrics and Gynecology
OB/GYN Resident at Brigham and Women's Hospital and Massachusetts General Hospital
PERSPECTIVE
Mitochondrial Replacement Techniques — Implications for the Clinical Community
Marni J. Falk, M.D., Alan Decherney, M.D., and Jeffrey P. Kahn, Ph.D., M.P.H.
N Engl J Med 2016; 374:104 | February 24, 2016 | DOI: 10.1056/NEJMp1600893
BACKGROUND
Mitochondrial DNA (mtDNA) disease may be the poster child for highly targeted, “personalized” medicine. These rare disorders have well-defined genetic causes: more than 400 known pathogenic mutations or deletions in the 16,569-base-pair, mitochondrial chromosome that encodes 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.
Reproductive scientists have focused on preventing transmission by replacing the mitochondria harboring disease-causing mutations in a carrier mother’s oocytes or zygotes with mitochondria containing healthy mtDNA genomes (see diagram). Since the mtDNA genome is quarantined within mitochondria, separated from the 20,000-plus genes residing in each cell’s nucleus, it seems easiest to replace mutated mitochondria with healthy mitochondria from oocytes donated by another woman. Mitochondria are inherited only through the maternal germline, so those in an oocyte or zygote would theoretically need to be replaced only once to prevent the clinical sequelae of inherited mtDNA disease from manifesting in the child and, if that child was female, in her future offspring.
Originally Appeared in The New England Journal of Medicine on February 24, 2016.
Robert Henry Levi and Ryda Hecht Levi Professor of Bioethics and Public Policy at Johns Hopkins Berman Institute of Bioethics
Clinical Geneticist at Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA
Professor, Department of Neurology and Cell Biology at University of Miami Leonard M. Miller School of Medicine
Pediatrician, Neonatal (NICU) hospitalist, Medical Biochemical Geneticist, Clinical Geneticist, Co-Director of Pediatric Integrative Medicine (PIM) Residency program, Stanford Children's Hospital & Stanford University, California, USA
Member, Senate of the Dutch Parliament, Associate Professor of Medical Ethics at University Medical Center Utrecht
Director, OHSU Oocyte Donation Program, Associate Professor at Oregon Health & Science University
Professor and Canada Research Chair in Bioethics and Philosophy, Dalhousie University, CANADA
Genetic Counselor, Study Coordinator, Department of Neurology at Columbia University in the City of New York
Professor of Clinical Genomics of Mitochondrial Diseases, Director of the Genome Center, at Maastricht University
Research Associate, Centre of Medical Law and Ethics, The Dickson Poon School of Law at King's College London
Research Associate at Wellcome Trust Centre for Mitochondrial Research, Newcastle University
Professor of Mitochondrial Genetics, Nuffield Department of Obstetrics and Gynecology
Research Assistant Professor, Dr. J.T. Macdonald Foundation Department of Human Genetics, Institute for Bioethics and Health Policy, John P. Hussman Institute for Human Genomics, and Interdisciplinary Stem Cell Institute at University of Miami Miller School of Medicine
Laboratory of Pediatric Infectious Diseases, Radboud Institute for Molecular Life Sciences at Radboud University Medical Center
Resident in Obstetrics and Gynecology at Obstetrics and Gynecology
OB/GYN Resident at Brigham and Women's Hospital and Massachusetts General Hospital