Novel Mutations in Cholangiocarcinoma with Low Frequencies Revealed by Whole Mitochondrial Genome Sequencing

Muisuk, Kanha; Silsirivanit, Atit; Imtawil, Kanokwan; Bunthot, Suphawadee; Pukhem, Ake; Pairojkul, Chawalit; Wongkham, Sopit; Wongkham, Chaisiri

doi:10.7314/apjcp.2015.16.5.1737

Cited by 9 publications

(2 citation statements)

References 18 publications

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“…In addition, SDHA and UQCRC2 were affected in only 11% and 10% of the cases, respectively. Mitochondrial DNA was reported to be significantly mutated in CCCs [26,33]. This can partially explain the observed OXPHOS defects in our sample cohort.…”

Section: Discussionmentioning

confidence: 56%

Low VDAC1 Expression Is Associated with an Aggressive Phenotype and Reduced Overall Patient Survival in Cholangiocellular Carcinoma

Feichtinger

Neureiter

Kemmerling

et al. 2019

Cells

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Cancer cells frequently exhibit dysfunctional oxidative phosphorylation (OXPHOS) and a concomitant increase in glycolytic flux. We investigated the expression of OXPHOS complex subunits and mitochondrial mass in 34 human cholangiocellular carcinomas (CCCs) and adjacent normal tissue by using tissue microarrays. In the tumor periphery, all OXPHOS complexes were reduced except complex I. In addition, significantly lower levels of complex IV were found at the tumor center (p < 0.0001). Mitochondrial mass, as indicated by VDAC1 expression, was significantly increased in CCCs compared to corresponding normal tissue (p < 0.0001). VDAC1 levels were inversely correlated with UICC (Union Internationale Contre le Cancer) cancer stage classification (p = 0.0065). Furthermore, significantly lower VDAC1 was present in patients with lymph node involvement (p = 0.02). Consistent with this, patients whose carcinomas expressed VDAC1 at low to moderate levels had significantly reduced survival compared to high expressors (p < 0.05). Therefore, low mitochondrial mass is associated with more aggressive CCC. These metabolic features are indicative of a Warburg phenotype in CCCs. This metabolic signature has potential therapeutic implications because tumors with low mitochondrial function may be targeted by metabolic therapies such as a high-fat, low-carbohydrate ketogenic diet.

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Section: Discussionmentioning

confidence: 56%

Low VDAC1 Expression Is Associated with an Aggressive Phenotype and Reduced Overall Patient Survival in Cholangiocellular Carcinoma

Feichtinger

Neureiter

Kemmerling

et al. 2019

Cells

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“…Recent phylogenetic studies reveal that mitochondrial genomes can provide sufficient resolution for reconstructing a robust phylogeny (Gómez-Carballa et al, 2015;Muisuk et al, 2015;Wang et al, 2015). The use of gibbons' whole mitochondrial genome sequences may help to resolve their undetermined phylogenetic relationships.…”

Section: General Instructionsmentioning

confidence: 99%

A Phylogeny Based on the Concatenated 9 Protein-coding Gene Sequences of Mt Genomes among Three Gibbon Genera

Li¹,

Li²,

Li³

et al. 2017

dtcse

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The objective of this study was to reconstruct phylogenetic relationships of gibbons (3 genera, 11 species) deduced from complete sequenced mitochondrial genome sequences. According to conserved (C) / variable (V) sites ratio test, 9 selected protein coding genes were combined into a sequence with 9356 bases long including gaps. A resolved phylogenetic tree was obtained for the mitochondrial genome in the maximum-likelihood and maximum-parsimony analyses. In accordance with all previous morphological and molecular evidence, our results clearly supported monophyly of family Hylobatidae with predominantly strongly supported and each of the three genera with high support based on these coding genes. Among three genera, first Nomascus, next Symphalangus and at last Hylobates diverged, which identical to other previous research based on the whole mitochondrial genome. Our phylogenetic relationships of Nomascus group accord with Chan et al. (2010), only support values of a node of N. gabriellae (90%) were slight lower than Chan's result (97%). Among genus Hylobates, in our result, 6 species are involved and H. pileatus, H. lar, H. klossii, H. agilis, H. moloch and H. muelleri diverged sequentially.

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Mitochondrial Biology in Hepatobiliary Tumors: Changes of the Cellular Energy Factory

Zimmermann

2016

Tumors and Tumor-Like Lesions of the Hepatobiliary Tract

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Novel Mutations in Cholangiocarcinoma with Low Frequencies Revealed by Whole Mitochondrial Genome Sequencing

Cited by 9 publications

References 18 publications

Low VDAC1 Expression Is Associated with an Aggressive Phenotype and Reduced Overall Patient Survival in Cholangiocellular Carcinoma

Low VDAC1 Expression Is Associated with an Aggressive Phenotype and Reduced Overall Patient Survival in Cholangiocellular Carcinoma

A Phylogeny Based on the Concatenated 9 Protein-coding Gene Sequences of Mt Genomes among Three Gibbon Genera

Mitochondrial Biology in Hepatobiliary Tumors: Changes of the Cellular Energy Factory

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