Yıl: 2020 Cilt: 7 Sayı: 2 Sayfa Aralığı: 201 - 206 Metin Dili: İngilizce DOI: 10.5152/ArcHealthSciRes.2020.589394 İndeks Tarihi: 30-10-2020

Gene Replacement in the Prevention of Hereditary Mitochondrial Diseases: Three Parent Babies and Ethics

Öz:
Mitochondrial diseases increase mortality and morbidity caused by mutations in mitochondrial DNA (mtDNA) or functional gene disorders of mitochondria. Hereditary mutations in mtDNA are an important cause of genetic diseases for which there is no effective treatment and are transmitted from generation to generation. Mutations in DNA have an important role in infertility or other reproductive anomalies that occur later in life by affecting oocyte functions as well as negatively affecting vital organs. With the development of technology, one of the new treatment approaches developed for mitochondrial diseases is mitochondrial gene replacement therapy (MRT). MRT allows women who are carriers of mtDNA mutations to have a genetically healthy child. In this review, MRT, its effects, nursing dimensions, and ethical relationship are discussed.
Anahtar Kelime:

Kalıtsal Mitokondriyal Hastalıkların Önlenmesinde Gen Replasmanı: Üç Ebeveynli Bebekler ve Etik

Öz:
Mitokondriyal hastalıklar, mitokondriyal DNA (mtDNA)’daki mutasyonlardan veya mitokondrinin fonksiyonel gen bozukluklarından kaynaklanan mortalite ve morbiditeyi arttıran hastalıklardır. mtDNA’daki kalıtsal mutasyonlar etkili bir tedavinin bulunmadığı genetik hastalıkların önemli bir sebebidir ve nesilden nesile aktarılmaktadır. DNA’da meydana gelen mutasyonlar, hayati öneme sahip organları olumsuz etkilediği gibi oosit fonksiyonlarını da etkileyerek infertilite ya da yaşamın ilerleyen dönemlerinde ortaya çıkan diğer üreme anomalilerinde önemli bir rol oynamaktadır. Teknolojinin gelişmesiyle beraber mitokondriyal hastalıklara yönelik geliştirilen yeni yaklaşımlardan biri de mitokondriyal gen replasman tedavisi (MRT)’dir. MRT, mtDNA mutasyonlarının taşıyıcısı olan kadınların genetik olarak sağlıklı bir çocuğa sahip olmasına olanak tanımaktadır. Bu derlemede mitokondriyal gen replasman tedavisi, mitokondriyal gen replasman tedavisinin etkileri, hemşirelik boyutu, mitokondriyal gen replasman tedavisinin etik boyutu ve hemşirelikle ilişkisi tartışılmıştır.
Anahtar Kelime:

Belge Türü: Makale Makale Türü: Derleme Erişim Türü: Erişime Açık
  • 1. Taylor Robert W, Turnbull Doug M. Mitochondrial Dna Mutations in Human Disease. Nat Rev Genet 2005; 6: 389.
  • 2. Amato P, Tachibana, M, Sparman M, Mitalipov S. Three-parent in Vitro Fertilization: Gene Replacement for the Prevention of Inherited Mitochondrial diseases. Fertil Steril 2014; 101: 31-5.
  • 3. Greaves LC, Reeve AK, Taylor RW, Turnbull DM. Mitochondrial DNA and Disease. J Pathol 2012; 226: 274-86.
  • 4. Brandon M, Baldı P, Wallace DC. Mitochondrial Mutations in Cancer. Oncogene 2006; 25: 4647.
  • 5. Boland ML, Chourasıa AH, Macleod KF. Mitochondrial Dysfunction in Cancer. Front Oncol 2013; 3: 292.
  • 6. Schatten H, Sun Q. Y, Prather R. The impact of mitochondrial function/dysfunction on IVF and new treatment possibilities for infertility. Biol Reprod Endocrinol. 2014; 12: 111.
  • 7. Wakefield SL, Lane M, Mitchell M. Impaired Mitochondrial Function in the Preimplantation Embryo Perturbs Fetal and Placental Development in the Mouse. Biol Reprod 2011; 84: 572-80.
  • 8. Chappel S. The role of Mitochondria from Mature Oocyte to Viable Blastocyst. Obstet Gynecol Int 2013; 2013: 183024.
  • 9. Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, et al. Prevalence of Nuclear and Mitochondrial DNA Mutations Related to Adult Mitochondrial Disease. Annals of neurology 2015; 77: 753-9.
  • 10. Schaefer AM, McFarland R, Blakely EL, He L, Whittaker RG, Taylor RW, et al. Prevalence of mitochondrial DNA disease in adults. ANN Neurol 2008; 63: 35-9.
  • 11. McFarland R, Taylor RW, Turnbull DM. A Neurological Perspective on Mitochondrial Disease. Lancet Neurol 2010; 9: 829-40.
  • 12. DiMauro S, Schon EA, Carelli V, Hirano M. The Clinical Maze of Mitochondrial Neurology. Nat Rev Neurol 2013; 9: 429-44.
  • 13. Gorman GS, Grady JP, Turnbull DM. Mitochondrial Donation--How Many Women Could Benefit? N Engl J Med 2015; 372: 885-87.
  • 14. Bredenoord AL, Appleby JB. Mitochondrial Replacement Techniques: Remaining Ethical Challenges. Cell Stem Cell 2017; 21: 301-4.
  • 15. Baylis F. The ethics of Creating Children with Three Genetic Parents. Reprod Biomed Online 2013; 26: 531-4.
  • 16. Jones DA. The Other Woman: Evaluating the Language of ‘Three Parent’embryos. Clinical Ethics 2015; 10: 97-106.
  • 17. Dimond R. Social and Ethical İssues in Mitochondrial Donation. Br Med Bull 2015; 115: 173-82.
  • 18. Palacios-González C. Mitochondrial Replacement Techniques: Egg Donation, Genealogy and Eugenics. Monash Bioeth Rev 2016; 34: 37-51.
  • 19. Zhang J, Liu H, Luo S, Chavez-Badiola A, Liu Z, Munne S, et al. First Live Birth Using Human Oocytes Reconstituted by Spindle Nuclear Transfer for Mitochondrial DNA Mutation Causing Leigh Syndrome. Fertil Steril 2016; 106: e375-6.
  • 20. Wolf, DP, Mitalipov N, Mitalipov S. Mitochondrial Replacement Therapy in Reproductive Medicine. Trends Mol Med 2015; 21: 68-76.
  • 21. Brown SS, Lindell DF, Dolansky MA, Garber JS. Nurses’ Professional Values and Attitudes toward Collaboration With Physicians. Nurs Ethics 2015; 22: 205-16.
  • 22. Atasay B, Arslan S. Anne ve Yenidoğan Hakları Barselona Deklarasyonu. Sürekli Tıp Eğitimi Dergisi 2001; 10: 457-9.
  • 23. Rosenthal MS. Preventive Ethics Approach to IVF in The Age of Octuplets. Fertil Steril 2010; 93: 339-40.
  • 24. Rulli T. The Mitochondrial Replacement ‘Therapy’myth. Bioethics 2017; 31: 368-74.
  • 25. Mills C, Ludlow K, Sparrow R, Warren N. Submission to Australian Senate Standing Committee on Community Affairs: inquiry into the science of mitochondrial donation and other matters. Monash University Monash, Bioethics Centre. 11 May 2018. Available from: https://researchmgt.monash.edu/ws/portalfiles/portal/253992791/253475791.pdf
  • 26. Pompei M, Pompei F. Overcoming Bioethical, Legal, and Hereditary Barriers to Mitochondrial Replacement Therapy in The USA. J Assist Reprod Genet 2019; 36: 383-93.
  • 27. Zeiler K, Malmquist A. Lesbian Shared Biological Motherhood: The Ethics of IVF with Reception of Oocytes From Partner. Med Health Care Philos 2014; 17: 347-55.
  • 28. Food and Drug Administration (FDA). Briefing Document Cellular, Tissue, and Gene Therapies Advisory Committee. Oocyte Modification in Assisted Reproduction for the Prevention of Transmission of Mitochondrial Disease or Treatment of Infertility. 2014. Available from: https://www.fda.gov/downloads/advisorycommittees/committeesmeetingmaterials/bloodvaccinesandotherbiologics/cellulartissueandgenetherapiesadvisorycommittee/ucm385461.pdf.
  • 29. Fischbach RL, Benston S, Loike J. DCreating a Three-Parent Child: An Educational Paradigm for the Responsible Conduct of Research. Microbiol Biol Educ 2014; 15: 186.
  • 30. Claiborne AB, English RA, Kahn JP. Finding an Ethical Path Forward for Mitochondrial Replacement. Science 2016; 351: 668-70.
  • 31. National Academies of Sciences, Engineering, and Medicine. Mitochondrial replacement techniques: 2016. Ethical, social, and Policy Considerations. United States: National Academies Press. 2016.
  • 32. Bredenoord A, Dondorp W, Pennings G, De Wert G. Ethics of Modifying the Mitochondrial Genome. J Med Ethics 2011; 37: 97-100.
  • 33. Gómez-Tatay L, Hernández-Andreu J, Aznar J. Mitochondrial Modification Techniques and Ethical Issues. J Clin Med 2017; 6: 25.
  • 34. Bredenoord AL, Braude P. Ethics of Mitochondrial Gene Replacement: from Bench to Bedside. BMJ 2010; 341: c6021.
  • 35. Fogleman S, Santana C, Bishop C, Miller A, Capco D. GCRISPR/Cas9 and Mitochondrial Gene Replacement Therapy: Promising Techniques and Ethical Considerations. AJSC 2016; 5: 39.
  • 36. Whitehead M. The Concepts and Principles of Equity and Health. Health Promot Int 1991; 6: 217-28.
  • 37. Loike JD, Reame N. Opinion: Ethical considerations of “Three-parent” Babies. The Scientist 2016. Available from: https://www.the-scientist.com/?articles.view/articleNo/47725/title/Opinion--Ethical-Considerations-of--Three-Parent--Babies/.
  • 38. Zhang J, Liu H, Luo S, Lu Z, Chávez-Badiola A, Liu, Z, et al. Live Birth Derived from Oocyte Spindle Transfer to Prevent Mitochondrial Disease. Reprod Biomed Online 2017; 34: 361-8.
  • 39. Korhonen E. S, Nordman T, Eriksson K. Technology And its Ethics in Nursing and Caring Journals: An integrative Literature Review. Nurs Ethics 2015; 22: 561-76.
  • 40. Lewis JA, Sommers CO. Personal Data Assistants: Using New Technology to Enhance Nursing Practice. MCN Am J Matern Child Nurs 2003; 28: 66-71.
  • 41. Courtney KL, Demiris G, Alexander GL. Information Technology: Changing Nursing Processes at the Point‐of‐Care. Nurs Adm Q 2005; 29: 315-22.
  • 42. Cerit B, Dinç L. Ethical Decision-Making and Professional Behaviour Among Nurses: A Correlational Study. Nursing Ethics 2013; 20: 200-12.
  • 43. International Council of Nurses (ICN). The ICN Code of Ethics for Nurses. Revised 2012. Available from: https://www.icn.ch/sites/default/files/inline-files/2012_ICN_Codeofethicsfornurses_%20eng.pdf.
  • 44. American Nurses Association (ANA). Code of Ethics for Nurses with İnterpretative Statements. Silver Spring, 2015.Available from: http://nursingworld.org/DocumentVault/Ethics-1/Code-of-Ethics-for-Nurses.html.
  • 45. Gedük EA. Hemşirelik Mesleğinin Gelişen Rolleri. Sağlık Bilimleri ve Meslekleri Dergisi 2018; 5: 253-8.
  • 46. Cole C, Wellard S, Mummery J. Problematising Autonomy and Advocacy in Nursing. Nurs Ethics 2014; 21: 576-82.
  • 47. Davis A, Konishi E, Tashiro MA. Pilot Study of Selected Japanese Nurses’ Ideas on Patient Advocacy. Nurs Ethics 2003; 10: 404-13.
  • 48. Beauchamp TL. Childress JF. Principles of Biomedical Ethics, 7th edn. New York: Oxford University Press. 2013.
  • 49. Parascandola M, Hawkins JS, Danis M. Patient Autonomy and the Challenge of Clinical Uncertainty. Kennedy Inst Ethics J 2002; 12: 245-64.
  • 50. Botes AA. Comparison Between the Ethics of Justice and the Ethics of Care. J Adv Nurs 2000; 32: 1071-5.
  • 51. Grace PJ, Willis DG. Nursing Responsibilities and Social Justice: An Analysis in Support of Disciplinary Goals. Nurs Outlook 2012; 60: 198-207.
APA Evrenol Öçal S, SİMSEK CETİNKAYA S, YUCEL OZCIRPAN C, Koç G (2020). Gene Replacement in the Prevention of Hereditary Mitochondrial Diseases: Three Parent Babies and Ethics. , 201 - 206. 10.5152/ArcHealthSciRes.2020.589394
Chicago Evrenol Öçal Simge,SİMSEK CETİNKAYA SAHIKA,YUCEL OZCIRPAN CIGDEM,Koç Gülten Gene Replacement in the Prevention of Hereditary Mitochondrial Diseases: Three Parent Babies and Ethics. (2020): 201 - 206. 10.5152/ArcHealthSciRes.2020.589394
MLA Evrenol Öçal Simge,SİMSEK CETİNKAYA SAHIKA,YUCEL OZCIRPAN CIGDEM,Koç Gülten Gene Replacement in the Prevention of Hereditary Mitochondrial Diseases: Three Parent Babies and Ethics. , 2020, ss.201 - 206. 10.5152/ArcHealthSciRes.2020.589394
AMA Evrenol Öçal S,SİMSEK CETİNKAYA S,YUCEL OZCIRPAN C,Koç G Gene Replacement in the Prevention of Hereditary Mitochondrial Diseases: Three Parent Babies and Ethics. . 2020; 201 - 206. 10.5152/ArcHealthSciRes.2020.589394
Vancouver Evrenol Öçal S,SİMSEK CETİNKAYA S,YUCEL OZCIRPAN C,Koç G Gene Replacement in the Prevention of Hereditary Mitochondrial Diseases: Three Parent Babies and Ethics. . 2020; 201 - 206. 10.5152/ArcHealthSciRes.2020.589394
IEEE Evrenol Öçal S,SİMSEK CETİNKAYA S,YUCEL OZCIRPAN C,Koç G "Gene Replacement in the Prevention of Hereditary Mitochondrial Diseases: Three Parent Babies and Ethics." , ss.201 - 206, 2020. 10.5152/ArcHealthSciRes.2020.589394
ISNAD Evrenol Öçal, Simge vd. "Gene Replacement in the Prevention of Hereditary Mitochondrial Diseases: Three Parent Babies and Ethics". (2020), 201-206. https://doi.org/10.5152/ArcHealthSciRes.2020.589394
APA Evrenol Öçal S, SİMSEK CETİNKAYA S, YUCEL OZCIRPAN C, Koç G (2020). Gene Replacement in the Prevention of Hereditary Mitochondrial Diseases: Three Parent Babies and Ethics. Archives of health science and research (Online), 7(2), 201 - 206. 10.5152/ArcHealthSciRes.2020.589394
Chicago Evrenol Öçal Simge,SİMSEK CETİNKAYA SAHIKA,YUCEL OZCIRPAN CIGDEM,Koç Gülten Gene Replacement in the Prevention of Hereditary Mitochondrial Diseases: Three Parent Babies and Ethics. Archives of health science and research (Online) 7, no.2 (2020): 201 - 206. 10.5152/ArcHealthSciRes.2020.589394
MLA Evrenol Öçal Simge,SİMSEK CETİNKAYA SAHIKA,YUCEL OZCIRPAN CIGDEM,Koç Gülten Gene Replacement in the Prevention of Hereditary Mitochondrial Diseases: Three Parent Babies and Ethics. Archives of health science and research (Online), vol.7, no.2, 2020, ss.201 - 206. 10.5152/ArcHealthSciRes.2020.589394
AMA Evrenol Öçal S,SİMSEK CETİNKAYA S,YUCEL OZCIRPAN C,Koç G Gene Replacement in the Prevention of Hereditary Mitochondrial Diseases: Three Parent Babies and Ethics. Archives of health science and research (Online). 2020; 7(2): 201 - 206. 10.5152/ArcHealthSciRes.2020.589394
Vancouver Evrenol Öçal S,SİMSEK CETİNKAYA S,YUCEL OZCIRPAN C,Koç G Gene Replacement in the Prevention of Hereditary Mitochondrial Diseases: Three Parent Babies and Ethics. Archives of health science and research (Online). 2020; 7(2): 201 - 206. 10.5152/ArcHealthSciRes.2020.589394
IEEE Evrenol Öçal S,SİMSEK CETİNKAYA S,YUCEL OZCIRPAN C,Koç G "Gene Replacement in the Prevention of Hereditary Mitochondrial Diseases: Three Parent Babies and Ethics." Archives of health science and research (Online), 7, ss.201 - 206, 2020. 10.5152/ArcHealthSciRes.2020.589394
ISNAD Evrenol Öçal, Simge vd. "Gene Replacement in the Prevention of Hereditary Mitochondrial Diseases: Three Parent Babies and Ethics". Archives of health science and research (Online) 7/2 (2020), 201-206. https://doi.org/10.5152/ArcHealthSciRes.2020.589394