Prevention of mitochondrial disease inheritance by assisted reproductive technologies: Prospects and challenges

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• 作者：Akiko Yabuuchi^a ; ^{a-yabuuchi@towako-kato.com} ; Zeki Beyhan^b ; Noriko Kagawa^a ; Chiemi Mori^a ; Kenji Ezoe^a ; Keiichi Kato^a ; Fumihito Aono^a ; Yuji Takehara^a ; Osamu Kato^a
• 关键词：Assisted reproductive technology ; Mitochondrial disease ; Mitochondrial DNA heteroplasmy ; Germinal vesicle transfer
• 刊名：Biochimica et Biophysica Acta (BBA)/General Subjects
• 出版年：2012
• 期刊代码：16_03044165
• 类别：bio
• 出版时间：May, 2012
• 卷：1820
• 期：5
• 页码：637-642
• 文件大小：405 K

摘要

Background

Mitochondrial diseases are caused by the mutations in both nuclear and mitochondrial DNA (mtDNA) and the treatment options for patients who have mitochondrial disease are rather limited. Mitochondrial DNA is transmitted maternally and does not follow a Mendelian pattern of inheritance. Since reliable and predictable detection of mitochondrial disorders in embryos and oocytes is unattainable at present, an alternative approach to this problem has emerged as partial or complete replacement of mutated mtDNA with the wild-type mtDNA through embryo manipulations. Currently available methods to achieve this goal are germinal vesicle transfer (GVT), metaphase chromosome transfer (CT), pronuclear transfer (PNT) and ooplasmic transfer (OT).

Scope of review

We summarize the state of the art regarding these technologies and discuss the implications of recent advances in the field for clinical practice.

Major conclusions

CT, PNT and GVT techniques hold promise to prevent transmission of mutant mtDNA through ARTs. However, it is clear that mtDNA heteroplasmy in oocytes, embryos and offspring produced by these methods remains as a legitimate concern.

General significance

New approaches to eliminate transmission of mutant mtDNA certainly need to be explored in order to bring the promise of clinical application for the treatment of mitochondrial disorders. This article is part of a Special Issue entitled Biochemistry of Mitochondria, Life and Intervention 2010.