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线粒体疾病的新遗传模式。

New patterns of inheritance in mitochondrial disease.

作者信息

Schwartz Marianne, Vissing John

机构信息

Department of Clinical Genetics, National University Hospital, Rigshospitalet, Copenhagen, Denmark.

出版信息

Biochem Biophys Res Commun. 2003 Oct 17;310(2):247-51. doi: 10.1016/j.bbrc.2003.09.037.

DOI:10.1016/j.bbrc.2003.09.037
PMID:14521902
Abstract

With the identification of a patient with mutated mitochondrial DNA (mtDNA) of paternal origin, it has been unequivocally proven that not only does paternal mtDNA survive in the zygote, but it can also contribute substantially to the mtDNA pool of adult, human skeletal muscle. The questions are: how often does paternal mtDNA inheritance occur and what mechanisms are involved? In this paper, we will review current knowledge on the fate of sperm mitochondria after fertilization and discuss the impact paternal inheritance may have on our understanding of mitochondrial biology.

摘要

随着一名父源线粒体DNA(mtDNA)发生突变的患者被鉴定出来,已经明确证实,父源mtDNA不仅能在受精卵中存活,而且还能对成年人类骨骼肌的mtDNA库做出重大贡献。问题是:父源mtDNA遗传的发生频率如何,涉及哪些机制?在本文中,我们将回顾受精后精子线粒体命运的现有知识,并讨论父源遗传可能对我们理解线粒体生物学产生的影响。

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1
New patterns of inheritance in mitochondrial disease.线粒体疾病的新遗传模式。
Biochem Biophys Res Commun. 2003 Oct 17;310(2):247-51. doi: 10.1016/j.bbrc.2003.09.037.
2
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Mammalian Cell-Free System Recapitulates the Early Events of Post-Fertilization Sperm Mitophagy.哺乳动物无细胞系统重现受精后精子噬丝体发生的早期事件。
Cells. 2021 Sep 17;10(9):2450. doi: 10.3390/cells10092450.
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Current strategies towards therapeutic manipulation of mtDNA heteroplasmy.当前治疗性干预 mtDNA 异质性的策略。
Front Biosci (Landmark Ed). 2017 Jan 1;22(6):991-1010. doi: 10.2741/4529.
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Moderately decreased maternal dietary energy intake during pregnancy reduces fetal skeletal muscle mitochondrial biogenesis in the pigs.孕期母体膳食能量摄入适度减少会降低猪胎儿骨骼肌的线粒体生物合成。
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Mitochondrial involvement in psychiatric disorders.线粒体与精神疾病的关联。
Ann Med. 2008;40(4):281-95. doi: 10.1080/07853890801923753.
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Mitochondrial DNA repair in aging and disease.衰老与疾病中的线粒体DNA修复
Mech Ageing Dev. 2008 Jul-Aug;129(7-8):383-90. doi: 10.1016/j.mad.2008.03.002. Epub 2008 Mar 13.