Purification and Comparative Assay of Human Mitochondrial Single-Stranded DNA-Binding Protein

Ciesielski, Grzegorz L.; Rosado-Ruiz, Fernando A.; Kaguni, Laurie S.

doi:10.1007/978-1-4939-3040-1_16

Cited by 4 publications

(4 citation statements)

References 19 publications

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“…The TWINKLE helicase encoded by TWNK gene is a mitochondrial 5'‐3’ helicase, which can bind to double‐stranded DNA (dsDNA), and dissociate it into single‐stranded DNA by breaking the hydrogen bond between the annealed nucleotide bases 18 . Besides, TWINKLE helicase can cooperate with Polγ to participate in the replication of mtDNA 19 . Peroxisome proliferator‐activated receptor γ coactivator‐1α (PGC‐1α), a transcriptional coactivator with multiple functional activities, plays a major role in the regulation of cellular energy homeostasis and mitochondrial oxidative metabolism 20 .…”

Section: Introductionmentioning

confidence: 99%

“… 18 Besides, TWINKLE helicase can cooperate with Polγ to participate in the replication of mtDNA. 19 Peroxisome proliferator‐activated receptor γ coactivator‐1α (PGC‐1α), a transcriptional coactivator with multiple functional activities, plays a major role in the regulation of cellular energy homeostasis and mitochondrial oxidative metabolism. 20 Studies have shown that PGC‐1α regulates the transcription of the mitochondrial genome by binding with NRF‐1 and NRF‐2 and activating the expression of the downstream genes TFAM , TFB1 M and TFB2 M that regulate the replication and transcription of mitochondrial DNA.…”

Section: Introductionmentioning

confidence: 99%

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Decrease of MtDNA copy number affects mitochondrial function and involves in the pathological consequences of ischaemic stroke

Zhang

Yang

Zhou

et al. 2022

J Cellular Molecular Medi

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The mtDNA copy number can affect the function of mitochondria and play an important role in the development of diseases. However, there are few studies on the mechanism of mtDNA copy number variation and its effects in IS. The specific mechanism of mtDNA copy number variation is still unclear. In this study, mtDNA copy number of 101 IS patients and 101 normal controls were detected by qRT‐PCR, the effect of D‐loop variation on mtDNA copy number of IS patients was explored. Then, a TFAM gene KD‐OE PC12 cell model was constructed to explore the effect of mtDNA copy number variation on mitochondrial function. The results showed that the mtDNA copy number level of the IS group was significantly lower than that of the normal control group ( p < 0.05). The relative expression of TFAM gene mRNA in the cells of the OGD/R treatment group was significantly lower than that of the control group ( p < 0.05). In addition, after TFAM gene knockdown and over‐expression plasmids were transfected into HEK 293T cells, mtDNA copy number and ATP production level of Sh‐TFAM transfection group was significantly decreased ( p < 0.05), while mtDNA copy number and ATP production level of OE‐TFAM transfected group were significantly higher than that of blank control group and OE‐ctrl negative control group ( p < 0.01). Our study demonstrated that mitochondrial D‐loop mutation and TFAM gene dysfunction can cause the decrease of mtDNA copy number, thus affecting the mitochondrial metabolism and function of nerve cells, participating in the pathological damage mechanism of IS.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Decrease of MtDNA copy number affects mitochondrial function and involves in the pathological consequences of ischaemic stroke

Zhang

Yang

Zhou

et al. 2022

J Cellular Molecular Medi

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“…The TWNK gene, also known as C10orf2 or PEO1, is responsible for encoding TWIN-KLE, an mtDNA helicase, an enzyme that unwinds DNA temporarily for replication [56]. The dysfunction in TWINKLE is thought to pause or stall mtDNA replication and accumulate many mtDNA deletions over time [57].…”

Section: Twinkle Mtdna Helicase (Twnk)mentioning

confidence: 99%

Mitochondrial Chronic Progressive External Ophthalmoplegia

Ali,

Esmaeil,

Behbehani

2024

Brain Sciences

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(1) Background: Chronic progressive external ophthalmoplegia (CPEO) is a rare disorder that can be at the forefront of several mitochondrial diseases. This review overviews mitochondrial CPEO encephalomyopathies to enhance accurate recognition and diagnosis for proper management. (2) Methods: This study is conducted based on publications and guidelines obtained by selective review in PubMed. Randomized, double-blind, placebo-controlled trials, Cochrane reviews, and literature meta-analyses were particularly sought. (3) Discussion: CPEO is a common presentation of mitochondrial encephalomyopathies, which can result from alterations in mitochondrial or nuclear DNA. Genetic sequencing is the gold standard for diagnosing mitochondrial encephalomyopathies, preceded by non-invasive tests such as fibroblast growth factor-21 and growth differentiation factor-15. More invasive options include a muscle biopsy, which can be carried out after uncertain diagnostic testing. No definitive treatment option is available for mitochondrial diseases, and management is mainly focused on lifestyle risk modification and supplementation to reduce mitochondrial load and symptomatic relief, such as ptosis repair in the case of CPEO. Nevertheless, various clinical trials and endeavors are still at large for achieving beneficial therapeutic outcomes for mitochondrial encephalomyopathies. (4) Key Messages: Understanding the varying presentations and genetic aspects of mitochondrial CPEO is crucial for accurate diagnosis and management.

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“…TWINKLE is a mitochondrial 5′-3′ helicase necessary for replication of human mitochondrial DNA (Milenkovic et al 2013 ; Tyynismaa et al 2004 ). It binds to and unwinds double-stranded DNA (dsDNA) by breaking hydrogen bonds between annealed nucleotide bases and separating to single strands (Tyynismaa et al 2005 ; Korhonen et al 2003 ; García-Gómez et al 2013 ; Cieskielski et al 2016 ; Lamantea et al 2002 ).…”

Section: Genes Encoding Proteins Involved In Mitochondrial Dna Replicmentioning

confidence: 99%

Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA

et al. 2018

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Mitochondrial diseases are defined by a respiratory chain dysfunction and in most of the cases manifest as multisystem disorders with predominant expression in muscles and nerves and may be caused by mutations in mitochondrial (mtDNA) or nuclear (nDNA) genomes. Most of the proteins involved in respiratory chain function are nuclear encoded, although 13 subunits of respiratory chain complexes (together with 2 rRNAs and 22 tRNAs necessary for their translation) encoded by mtDNA are essential for cell function. nDNA encodes not only respiratory chain subunits but also all the proteins responsible for mtDNA maintenance, especially those involved in replication, as well as other proteins necessary for the transcription and copy number control of this multicopy genome. Mutations in these genes can cause secondary instability of the mitochondrial genome in the form of depletion (decreased number of mtDNA molecules in the cell), vast multiple deletions or accumulation of point mutations which in turn leads to mitochondrial diseases inherited in a Mendelian fashion. The list of genes involved in mitochondrial DNA maintenance is long, and still incomplete.

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Purification and Comparative Assay of Human Mitochondrial Single-Stranded DNA-Binding Protein

Cited by 4 publications

References 19 publications

Decrease of MtDNA copy number affects mitochondrial function and involves in the pathological consequences of ischaemic stroke

Decrease of MtDNA copy number affects mitochondrial function and involves in the pathological consequences of ischaemic stroke

Mitochondrial Chronic Progressive External Ophthalmoplegia

Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA

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