Alteration of mitochondrial DNA and RNA level in human fibroblasts with impaired vitamin B12 coenzyme synthesis

Cantatore, Palmiro; Petruzzella, Vittoria; Nicoletti, Cinzia; Papadia, Francesco; Fracasso, Flavio; Rustin, Pierre; Gadaleta, Maria Nicola

doi:10.1016/s0014-5793(98)00857-6

Cited by 10 publications

(6 citation statements)

References 35 publications

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“…Only the ND6 gene is transcribed independently (for review, see Taanman 1999). Under specific inhibitory or pathological conditions, the levels of only a few of the mitochondrial transcripts changed (Collombet et al 1997;Cantatore et al 1998;Heddi et al 1999). This indicated that modification of the steady-state level of mitochondrial transcripts was not always a simultaneously and proportionate event affecting all the 13 OXPHOS transcripts.…”

Section: 4mentioning

confidence: 99%

Large Functional Range of Steady-State Levels of Nuclear and Mitochondrial Transcripts Coding for the Subunits of the Human Mitochondrial OXPHOS System

Duborjal¹,

Beugnot²,

Camaret³

et al. 2002

Genome Res.

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We have measured, by reverse transcription and real-time quantitative PCR, the steady-state levels of the mitochondrial and nuclear transcripts encoding several subunits of the human oxidative phosphorylation (OXPHOS) system, in different normal tissues (muscle, liver, trachea, and kidney) and in cultured cells (normal fibroblasts, 143B osteosarcoma cells, 143B206 0 cells). Five mitochondrial transcripts and nine nuclear transcripts were assessed. The measured amounts of these OXPHOS transcripts in muscle samples corroborated data obtained by others using the serial analysis of gene expression (SAGE) method to appraise gene expression in the same type of tissue. Steady-state levels for all the transcripts were found to range over more than two orders of magnitude. Most of the time, the mitochondrial H-strand transcripts were present at higher levels than the nuclear transcripts. The mitochondrial L-strand transcript ND6 was usually present at a low level. Cultured 143B cells contained significantly reduced amounts of mitochondrial transcripts in comparison with the tissue samples. In 143B206 0 cells, fully depleted of mitochondrial DNA, the levels of nuclear OXPHOS transcripts were not modified in comparison with the parental cells. This observation indicated that nuclear transcription is not coordinated with mitochondrial transcription. We also observed that in the different tissues and cells, there is a transcriptional coregulation of all the investigated nuclear genes. Nuclear OXPHOS gene expression seems to be finely regulated.[The following individual kindly provided reagents, samples, or unpublished information as indicated in the paper: G. Attardi.]Through the process of oxidative phosphorylation (OXPHOS), mitochondria provide most of the ATP to eukaryotic cells. Oxidative phosphorylation corresponds to the terminal stage of substrate oxidation in mitochondria, and is catalyzed by the OXPHOS system, which functionally associates the mitochondrial respiratory chain, composed of four complexes (complexes I, II, III, and IV), and ATP synthase (complex V) for ATP synthesis. The biogenesis of all these enzymatic complexes, except complex II, requires expression of genes located at the level of both the nuclear and the mitochondrial genomes. Mechanisms that putatively coordinate the expression of these genes are poorly understood at present.

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Section: 4mentioning

confidence: 99%

Large Functional Range of Steady-State Levels of Nuclear and Mitochondrial Transcripts Coding for the Subunits of the Human Mitochondrial OXPHOS System

Duborjal¹,

Beugnot²,

Camaret³

et al. 2002

Genome Res.

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“…Change of levels of mtDNA production may increase the generation of mitochondrial ROS. Corticotropin, which induces the secretion of other hormones, including corticosterone, and vitamin 12 are involved in regulating mtDNA and mtRNA expression4344. Gadaleta et al .…”

Section: Discussionmentioning

confidence: 99%

Changes in mitochondrial homeostasis and redox status in astronauts following long stays in space

Indo

Majima

Terada

et al. 2016

Sci Rep

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The effects of long-term exposure to extreme space conditions on astronauts were investigated by analyzing hair samples from ten astronauts who had spent six months on the International Space Station (ISS). Two samples were collected before, during and after their stays in the ISS; hereafter, referred to as Preflight, Inflight and Postflight, respectively. The ratios of mitochondrial (mt) to nuclear (n) DNA and mtRNA to nRNA were analyzed via quantitative PCR. The combined data of Preflight, Inflight and Postflight show a significant reduction in the mtDNA/nDNA in Inflight, and significant reductions in the mtRNA/nRNA ratios in both the Inflight and Postflight samples. The mtRNA/mtDNA ratios were relatively constant, except in the Postflight samples. Using the same samples, the expression of redox and signal transduction related genes, MnSOD, CuZnSOD, Nrf2, Keap1, GPx4 and Catalase was also examined. The results of the combined data from Preflight, Inflight and Postflight show a significant decrease in the expression of all of the redox-related genes in the samples collected Postflight, with the exception of Catalase, which show no change. This decreased expression may contribute to increased oxidative stress Inflight resulting in the mitochondrial damage that is apparent Postflight.

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“…It was recently reported that mtDNA genotype may influence nuclear gene expression, as demonstrated in yeast 61 and in patients with methylmalonic aciduria and vitamin B12 impaired synthesis. 62 In the latter cases, mutated mitochondrial gene induces a signal to the nucleus, to activate mtDNA replication. 62 Previously, we proposed KSS as a neurocristopathy, i.e.…”

Section: Discussionmentioning

confidence: 99%

“…62 In the latter cases, mutated mitochondrial gene induces a signal to the nucleus, to activate mtDNA replication. 62 Previously, we proposed KSS as a neurocristopathy, i.e. a disease correlated with NCC abnormality on the basis of facial abnormalities.…”

Section: Discussionmentioning

confidence: 99%

Kearns-Sayre syndrome with facial and white matter extensive involvement: a (mitochondrial and nuclear gene related?) neurocristopathy?

2017

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The Authors report on a patient with Kearns-Sayre syndrome, large mtDNA deletion (7/kb), facial abnormalities and severe central nervous system (CNS) white matter radiological features, commonly attributed to spongy alterations. The common origin from neural crest cell (NCC) of facial structures (cartilagineous, osseous, vascular and of the peripheral nervous system) and of peripheral glia and partially of the CNS white matter are underlined and the facial and glial abnormalities are attributed to the abnormal reproduction/migration of NCC. In this view, the CNS spongy alterations in KSS may be not only a dystrophic process (leukodystrophy) but also a dysplastic condition (leukodysplasia). The Authors hypothesize that the symptoms may be related to mtDNA mutations associated to NCC nuclear gene abnormality.

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Alteration of mitochondrial DNA and RNA level in human fibroblasts with impaired vitamin B12 coenzyme synthesis

Cited by 10 publications

References 35 publications

Large Functional Range of Steady-State Levels of Nuclear and Mitochondrial Transcripts Coding for the Subunits of the Human Mitochondrial OXPHOS System

Large Functional Range of Steady-State Levels of Nuclear and Mitochondrial Transcripts Coding for the Subunits of the Human Mitochondrial OXPHOS System

Changes in mitochondrial homeostasis and redox status in astronauts following long stays in space

Kearns-Sayre syndrome with facial and white matter extensive involvement: a (mitochondrial and nuclear gene related?) neurocristopathy?

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