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Reproductive options in mitochondrial disease

Lookup NU author(s): Professor Mary Herbert


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Copyright © 2023 Elsevier B.V. All rights reserved.Mitochondrial diseases require customized approaches for reproductive counseling, addressing differences in recurrence risks and reproductive options. The majority of mitochondrial diseases is caused by mutations in nuclear genes and segregate in a Mendelian way. Prenatal diagnosis (PND) or preimplantation genetic testing (PGT) are available to prevent the birth of another severely affected child. In at least 15%-25% of cases, mitochondrial diseases are caused by mitochondrial DNA (mtDNA) mutations, which can occur de novo (25%) or be maternally inherited. For de novo mtDNA mutations, the recurrence risk is low and PND can be offered for reassurance. For maternally inherited, heteroplasmic mtDNA mutations, the recurrence risk is often unpredictable, due to the mitochondrial bottleneck. PND for mtDNA mutations is technically possible, but often not applicable given limitations in predicting the phenotype. Another option for preventing the transmission of mtDNA diseases is PGT. Embryos with mutant load below the expression threshold are being transferred. Oocyte donation is another safe option to prevent the transmission of mtDNA disease to a future child for couples who reject PGT. Recently, mitochondrial replacement therapy (MRT) became available for clinical application as an alternative to prevent the transmission of heteroplasmic and homoplasmic mtDNA mutations.

Publication metadata

Author(s): Smeets HJM, Sallevelt SCEH, Herbert M

Editor(s): Horvath R; Hirano M; Chinnery PF

Publication type: Book Chapter

Publication status: Published

Book Title: Mitochondrial Diseases

Year: 2023

Volume: 194

Pages: 207-228

Print publication date: 16/06/2023

Online publication date: 20/02/2023

Acceptance date: 02/04/2022

Series Title: Handbook of Clinical Neurology

Publisher: Elsevier B.V.

Place Published: Amsterdam


DOI: 10.1016/B978-0-12-821751-1.00004-X

PubMed id: 36813314

Library holdings: Search Newcastle University Library for this item

ISBN: 9780128217511