Chinese expert brief consensus on newborn screening of inherited metabolic disorders during the novel coronavirus infection epidemic

Liu, Shan; Wang, Dongjuan; Wan, Ke-Xing; Líu, Hao; Zhang, Dayong; Yang, Jing; Yuan, Zhaojian; He, Xu; Wang, Jie; Ou, Mingcai; Zhu, Wei; Qu, Yiping; Zhao, Dingxin; Wang, Weipeng; Liu, Shiguo; Gu, Maosheng; Huang, Shuodan; Wang, Zhiguo; Zou, Lin

doi:10.21037/atm.2020.03.60

Cited by 10 publications

(7 citation statements)

References 5 publications

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“…Consequently, our findings led to a profound revision of previous assumptions regarding the significance of the cir-mtDNA amounts detected in our and other previous works (10,34,51,55,59,69–71). First, it can no longer be considered valid to examine cir-mtDNA with WGS or to discuss cir-mtDNA fragmentation under 1000 bp when discussing the overall cir-mtDNA population, since it accounts for a very tiny part of the cir-mtDNA amount.…”

Section: Discussionsupporting

confidence: 75%

Plasma derived cell-free mitochondrial DNA originates mainly from circulating cell-free mitochondria

Roch

Pisareva

Sanchez

et al. 2021

Preprint

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Circulating mitochondrial DNA (cir-mtDNA) could have a potential comparable to circulating nuclear DNA (cir-nDNA), with numerous applications. However, research and development in this area have fallen behind, particularly considering its origin and structural features. To tackle this, we initially combined Q-PCR and low-pass whole genome sequencing in the same analytical strategy previously and successfully used for cir-nDNA. This revealed unexplained structural patterns and led us to correlate these data with observations made during physical examinations such as filtration, and differential centrifugation in various plasma preparations. Both the integrity index and number of reads revealed a very minor proportion of low size-ranged fragments (<1000 bp) in plasma obtained with a standard preparation (0.06%). Filtration and high speed second step centrifugation revealed that 98.7 and 99.4% corresponded to extracellular mitochondria either free or in large extracellular vesicles. When avoiding platelet activation during plasma preparation, the proportion of both types of entities was still preponderant (76-80%), but the amount of detected mitochondrial DNA decreased 67-fold. In correlation with our previous study on the presence of circulating cell-free mitochondria in blood, our differential centrifugation procedure suggested that cir-mtDNA is also associated with approximately 18% small extracellular vesicles, 1.7% exosomes and 4% protein complexes.

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Section: Discussionsupporting

confidence: 75%

Plasma derived cell-free mitochondrial DNA originates mainly from circulating cell-free mitochondria

Roch

Pisareva

Sanchez

et al. 2021

Preprint

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“…Consequently, our findings lead to a profound revision of previous assumptions regarding the significance of the cir-mtDNA amounts detected in our and other previous works (Chiu et al, 2003;Jiang et al, 2015;Meddeb et al, 2019a;Bezdan et al, 2020;Grabuschnig et al, 2020;Li et al, 2020;Liu et al, 2020;Hägg et al, 2021). First, it can no longer be considered valid to examine short cir-mtDNA fragments (in particular under 1,000 bp) using DNA fragmentation index as determined by Q-PCR (Ellinger et al, 2009;Zonta et al, 2015;Meddeb et al, 2019b;Tanos et al, 2020) or using WGS (Chandrananda et al, 2015;Jiang et al, 2015)) when considering the overall cir-mtDNA population, since it accounts for a very tiny part of the cir-mtDNA amount.…”

Section: Discussionsupporting

confidence: 82%

Comparison of the structures and topologies of plasma extracted circulating nuclear and mitochondrial cell-free DNA

et al. 2023

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Introduction: The function, origin and structural features of circulating nuclear DNA (cir-nDNA) and mitochondrial DNA (cir-mtDNA) are poorly known, even though they have been investigated in numerous clinical studies, and are involved in a number of routine clinical applications. Based on our previous report disproving the conventional plasma isolation used for cirDNA analysis, this work enables a direct topological comparison of the circulating structures associated with nuclear DNA and mitochondrial cell-free DNA.Materials and methods: We used a Q-PCR and low-pass whole genome sequencing (LP-WGS) combination approach of cir-nDNA and cir-mtDNA, extracted using a procedure that eliminates platelet activation during the plasma isolation process to prevent mitochondria release in the extracellular milieu. Various physical procedures, such as filtration and differential centrifugation, were employed to infer their circulating structures.Results: DSP-S cir-mtDNA mean size profiles distributed on a slightly shorter range than SSP-S. SSP-S detected 40-fold more low-sized cir-mtDNA fragments (<90 bp/nt) and three-fold less long-sized fragments (>200 bp/nt) than DSP-S. The ratio of the fragment number below 90 bp over the fragment number above 200 bp was very homogenous among both DSP-S and SSP-S profiles, being 134-fold lower with DSP-S than with SSP-S. Cir-mtDNA and cir-nDNA DSP-S and SSP-S mean size profiles of healthy individuals ranged in different intervals with periodic sub-peaks only detectable with cir-nDNA. The very low amount of cir-mtDNA fragments of short size observed suggested that most of the cir-mtDNA is poorly fragmented and appearing longer than ∼1,000 bp, the readout limit of this LP-WGS method. Data suggested that cir-nDNA is, among DNA extracted in plasma, associated with ∼8.6% of large structures (apoptotic bodies, large extracellular vesicles (EVs), cell debris…), ∼27.7% in chromatin and small EVs and ∼63.7% mainly in oligo- and mono-nucleosomes. By contrast, cir-mtDNA appeared to be preponderantly (75.7%) associated with extracellular mitochondria, either in its free form or with large EVs; to a lesser extent, it was also associated with other structures: small EVs (∼18.4%), and exosomes or protein complexes (∼5.9%).Conclusion: This is the first study to directly compare the structural features of cir-nDNA and cir-mtDNA. The significant differences revealed between both are due to the DNA topological structure contained in the nucleus (chromatin) and in the mitochondria (plasmid) that determine their biological stability in blood. Although cir-nDNA and cir-mtDNA are principally associated with mono-nucleosomes and cell-free mitochondria, our study highlights the diversity of the circulating structures associated with cell-free DNA. They consequently have different pharmacokinetics as well as physiological functions. Thus, any accurate evaluation of their biological or diagnostic individual properties must relies on appropriate pre-analytics, and optimally on the isolation or enrichment of one category of their cirDNA associated structures.

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“…Current available data about the impact of COVID-19 on patients suffering from inborn errors of metabolism are very scarce. Published data concerning the pandemic are mainly reports describing expert opinions about management challenges and guidelines for IEM disorders [ [7] , [8] , [9] , [10] ], and few patient surveys investigating management problems and satisfaction [ [11] , [12] , [13] ]. Case reports of IEM patients with confirmed viral infection have also been published recently [ 13 , 14 ].…”

mentioning

confidence: 99%

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

Elmonem

Bélanger-Quintana

Bordugo

et al. 2020

Molecular Genetics and Metabolism

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Quantitative estimates for the global impact of COVID-19 on the diagnosis and management of patients with inborn errors of metabolism (IEM) are lacking. We collected relevant data from 16 specialized medical centers treating IEM patients in Europe, Asia and Africa. The median decline of reported IEM related services in March 1st-May 31st 2020 compared to the same period in 2019 were as high as 60–80% with a profound impact on patient management and care for this vulnerable patient group. More representative data along with outcome data and guidelines for managing IEM disorders under such extraordinary circumstances are needed.

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Chinese expert brief consensus on newborn screening of inherited metabolic disorders during the novel coronavirus infection epidemic

Cited by 10 publications

References 5 publications

Plasma derived cell-free mitochondrial DNA originates mainly from circulating cell-free mitochondria

Plasma derived cell-free mitochondrial DNA originates mainly from circulating cell-free mitochondria

Comparison of the structures and topologies of plasma extracted circulating nuclear and mitochondrial cell-free DNA

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

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