Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease.

ABSTRACT:

Background

Children born to women who carry pathogenic variants in mitochondrial DNA (mtDNA) are at risk for a range of clinical syndromes collectively known as mtDNA disease. Mitochondrial donation by pronuclear transfer involves transplantation of nuclear genome from a fertilized egg from the affected woman to an enucleated fertilized egg donated by an unaffected woman. Thus, pronuclear transfer offers affected women the potential to have a genetically related child with a reduced risk of mtDNA disease.

Methods

We offered mitochondrial donation (by pronuclear transfer) or preimplantation genetic testing (PGT) to a series of women with pathogenic mtDNA variants who sought to reduce the transmission of these variants to their children. Patients with heteroplasmy (variants pr

SUBMITTER: Hyslop LA 

PROVIDER: S-EPMC7617940 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature