Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon

Rius, Rocío; Cowley, Mark J.; Riley, Lisa G.; Puttick, Clare; Thorburn, David R.; Christodoulou, John

doi:10.1038/s41436-019-0568-0

Cited by 41 publications

(24 citation statements)

References 14 publications

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“…mtDNA is a circular genome that contains 16,569 base pairs, encodes 37 genes, and is exclusively maternally inherited through the female germline (via oocytes; Case & Wallace, 1981; Egger & Wilson, 1983; Giles, Blanc, Cann, & Wallace, 1980). While there have been occasional reports of biparental inheritance (Luo et al, 2018; Schwartz & Vissing, 2002), this remains a rare exception (Rius et al, 2019) and recently has been attributed to paternally inherited nuclear mitochondrial DNA segments (NUMTs or mtDNA pseudogenes) rather than paternal inheritance of the mitochondrial genome (Wei et al, 2020). The mitochondrial genome includes a noncoding D ‐loop region that regulates mtDNA transcription and replication, 13 protein‐coding genes that encode for core subunits of Complexes I, III, IV, and V (ATP synthase) of the electron transport chain (ETC), two rRNA genes, and 22 tRNA genes necessary for the translation of the 13 protein‐coding gene products.…”

Section: Considerations For Mtdna Genome Variant Assessmentmentioning

confidence: 99%

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

et al. 2020

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Section: Considerations For Mtdna Genome Variant Assessmentmentioning

confidence: 99%

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

et al. 2020

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“…Mitochondria are complex cytosolic organelles in eukaryotic cells that have been known for over a century. Unlike other organelles, they are maternally inherited (although biparental inheritance of mitochondrial DNA was recently reported but still under debate [ 89 , 90 ]) and compartmentalized. Concerning their structural characteristics, mitochondria consist of a matrix and two membranes with an interjacent intermembrane space (IMS).…”

Section: Mitochondriamentioning

confidence: 99%

Insights into Disease-Associated Tau Impact on Mitochondria

Szabo

Eckert

Grimm

2020

IJMS

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Abnormal tau protein aggregation in the brain is a hallmark of tauopathies, such as frontotemporal lobar degeneration and Alzheimer’s disease. Substantial evidence has been linking tau to neurodegeneration, but the underlying mechanisms have yet to be clearly identified. Mitochondria are paramount organelles in neurons, as they provide the main source of energy (adenosine triphosphate) to these highly energetic cells. Mitochondrial dysfunction was identified as an early event of neurodegenerative diseases occurring even before the cognitive deficits. Tau protein was shown to interact with mitochondrial proteins and to impair mitochondrial bioenergetics and dynamics, leading to neurotoxicity. In this review, we discuss in detail the different impacts of disease-associated tau protein on mitochondrial functions, including mitochondrial transport, network dynamics, mitophagy and bioenergetics. We also give new insights about the effects of abnormal tau protein on mitochondrial neurosteroidogenesis, as well as on the endoplasmic reticulum-mitochondria coupling. A better understanding of the pathomechanisms of abnormal tau-induced mitochondrial failure may help to identify new targets for therapeutic interventions.

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“…Accordingly, ROS activate several cell death pathways, including necrosis and apoptosis pathways; more importantly, they also cause severe damage to DNA [13]. Mitochondria possess their own DNA (mtDNA), which is almost exclusively maternally inherited [14,15] and consists of base pairs that constitute 37 genes encoding 13 polypeptides essential for oxidative phosphorylation (OXPHOS) plus 22 tRNAs and two rRNAs. Unlike nuclear DNA (nDNA), mtDNA has rudimentary DNA repair mechanisms and is not protected by histones.…”

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confidence: 99%

Mitophagy in Cardiovascular Diseases

Morciano

Patergnani

Bonora

et al. 2020

JCM

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Cardiovascular diseases are one of the leading causes of death. Increasing evidence has shown that pharmacological or genetic targeting of mitochondria can ameliorate each stage of these pathologies, which are strongly associated with mitochondrial dysfunction. Removal of inefficient and dysfunctional mitochondria through the process of mitophagy has been reported to be essential for meeting the energetic requirements and maintaining the biochemical homeostasis of cells. This process is useful for counteracting the negative phenotypic changes that occur during cardiovascular diseases, and understanding the molecular players involved might be crucial for the development of potential therapies. Here, we summarize the current knowledge on mitophagy (and autophagy) mechanisms in the context of heart disease with an important focus on atherosclerosis, ischemic heart disease, cardiomyopathies, heart failure, hypertension, arrhythmia, congenital heart disease and peripheral vascular disease. We aim to provide a complete background on the mechanisms of action of this mitochondrial quality control process in cardiology and in cardiac surgery by also reviewing studies on the use of known compounds able to modulate mitophagy for cardioprotective purposes.

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Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon

Cited by 41 publications

References 14 publications

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

Insights into Disease-Associated Tau Impact on Mitochondria

Mitophagy in Cardiovascular Diseases

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