mtDNA Heteroplasmy in Monozygotic Twins Discordant for Schizophrenia

Liang, Hong; Bi, Rui; Yu, Fan; Wu, Yong; Tang, Yanqing; Li, Zongchang; He, Ying; Zhou, Jun; Tang, Jinsong; Chen, Xiaogang; Yao, Yong‐Gang

doi:10.1007/s12035-016-9996-x

Cited by 13 publications

(10 citation statements)

References 58 publications

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“…They observed from one to four point heteroplasmies (i.e., the presence of more than one mtDNA type in an individual due to mutations) in all ten sets of twins, demonstrating the efficiency of ultradeep mtGenome in differentiating identical twins. Opposing results were observed by Li et al: However, no heteroplasmy differences were observed in the analysis of eight pairs of MZ twins (Li et al, 2017). They suggested that Wang's data contained many potential errors.…”

Section: Identification Of Monozygotic Twinsmentioning

confidence: 76%

Applications of massively parallel sequencing in forensic genetics

et al. 2022

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Massively parallel sequencing, also referred to as next-generation sequencing, has positively changed DNA analysis, allowing further advances in genetics. Its capability of dealing with low quantity/damaged samples makes it an interesting instrument for forensics. The main advantage of MPS is the possibility of analyzing simultaneously thousands of genetic markers, generating high-resolution data. Its detailed sequence information allowed the discovery of variations in core forensic short tandem repeat loci, as well as the identification of previous unknown polymorphisms. Furthermore, different types of markers can be sequenced in a single run, enabling the emergence of DIP-STRs, SNP-STR haplotypes, and microhaplotypes, which can be very useful in mixture deconvolution cases. In addition, the multiplex analysis of different single nucleotide polymorphisms can provide valuable information about identity, biogeographic ancestry, paternity, or phenotype. DNA methylation patterns, mitochondrial DNA, mRNA, and microRNA profiling can also be analyzed for different purposes, such as age inference, maternal lineage analysis, body-fluid identification, and monozygotic twin discrimination. MPS technology also empowers the study of metagenomics, which analyzes genetic material from a microbial community to obtain information about individual identification, post-mortem interval estimation, geolocation inference, and substrate analysis. This review aims to discuss the main applications of MPS in forensic genetics.

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Section: Identification Of Monozygotic Twinsmentioning

confidence: 76%

Applications of massively parallel sequencing in forensic genetics

et al. 2022

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“…Discordant phenotypes of MZ twins are common and widely discussed in genetic studies (van Dongen et al, 2012; Zwijnenburg et al, 2010), and mtDNA heteroplasmy is believed to involve in the difference of phenotypes (Detjen et al, 2007; Li et al, 2016). To examine whether mtDNA composition contributes to this pedigree, we also compared mtDNA composition in the maternal lineage.…”

Section: Discussionmentioning

confidence: 99%

Four-Generation Pedigree of Monozygotic Female Twins Reveals Genetic Factors in Twinning Process by Whole-Genome Sequencing

et al. 2018

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Familial monozygotic (MZ) twinning reports are rare around the world, and we report a four-generation pedigree with seven recorded pairs of female MZ twins. Whole-genome sequencing of seven family members was performed to explore the featured genetic factors in MZ twins. For variations specific to MZ twins, five novel variants were observed in the X chromosome. These candidates were used to explain the seemingly X-linked dominant inheritance pattern, and only one variant was exonic, located at the 5'UTR region of ZCCHC12 (chrX: 117958597, G > A). Besides, consistent mitochondrial DNA composition in the maternal linage precluded roles of mitochondria for this trait. In this pedigree, autosomes also contain diverse variations specific to MZ twins. Pathway analysis revealed a significant enrichment of genes carrying novel SNVs in the epithelial adherens junction-signaling pathway (p = .011), contributed by FGFR1, TUBB6, and MYH7B. Meanwhile, TBC1D22A, TRIOBP, and TUBB6, also carrying similar SNVs, were involved in the GTPase family-mediated signal pathway. Furthermore, gene-set enrichment analysis for 533 genes covered by copy number variations specific to MZ twins illustrated that the tight junction-signaling pathway was significantly enriched (p < .001). Therefore, the novel changes in the X chromosome and the provided candidate variants across autosomes may be responsible for MZ twinning, giving clues to increase our understanding about the underlying mechanism.

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“…Mitochondrial dysfunction is implicated in several human diseases, including cancer ( 41 ), diabetes ( 42 ), cardiovascular disease (CVD) ( 43 ), HIV/AIDS ( 44 ), multiple sclerosis ( 45 ), Alzheimer’s, Parkinson’s, Huntington’s ( 34 ), autism ( 46 ), and schizophrenia ( 47 ). Mitochondria are also implicated as drivers of aging phenotypes ( 1 , 20 ).…”

Section: The Mitochondria In Aging and Complex Diseasementioning

confidence: 99%

Mitochondrial genomic integrity and the nuclear epigenome in health and disease

et al. 2022

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Bidirectional crosstalk between the nuclear and mitochondrial genomes is essential for proper cell functioning. Mitochondrial DNA copy number (mtDNA-CN) and heteroplasmy influence mitochondrial function, which can influence the nuclear genome and contribute to health and disease.Evidence shows that mtDNA-CN and heteroplasmic variation are associated with aging, complex disease, and all-cause mortality. Further, the nuclear epigenome may mediate the effects of mtDNA variation on disease. In this way, mitochondria act as an environmental biosensor translating vital information about the state of the cell to the nuclear genome.Cellular communication between mtDNA variation and the nuclear epigenome can be achieved by modification of metabolites and intermediates of the citric acid cycle and oxidative phosphorylation. These essential molecules (e.g. ATP, acetyl-CoA, ɑ-ketoglutarate and S-adenosylmethionine) act as substrates and cofactors for enzymes involved in epigenetic modifications.The role of mitochondria as an environmental biosensor is emerging as a critical modifier of disease states. Uncovering the mechanisms of these dynamics in disease processes is expected to lead to earlier and improved treatment for a variety of diseases. However, the influence of mtDNA-CN and heteroplasmy variation on mitochondrially-derived epigenome-modifying metabolites and intermediates is poorly understood. This perspective will focus on the relationship between mtDNA-CN, heteroplasmy, and epigenome modifying cofactors and substrates, and the influence of their dynamics on the nuclear epigenome in health and disease.

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mtDNA Heteroplasmy in Monozygotic Twins Discordant for Schizophrenia

Cited by 13 publications

References 58 publications

Applications of massively parallel sequencing in forensic genetics

Applications of massively parallel sequencing in forensic genetics

Four-Generation Pedigree of Monozygotic Female Twins Reveals Genetic Factors in Twinning Process by Whole-Genome Sequencing

Mitochondrial genomic integrity and the nuclear epigenome in health and disease

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