Table 2.
mtDNA sequence variations in glioma and normal human astrocyte cell lines.
| Cell Line | Nucleotide Position | Nucleotide Change | Hetero-plasmy | Gene Locus | RNA | Amino Acid Change | Remarks |
|---|---|---|---|---|---|---|---|
| NHA | 57 1282 15937 15940 16160 |
T > C G > A A > A/C T > C A > G |
No No Yes No No |
MT-DLOOP MT-RNR1 MT-TT MT-TT MT-DLOOP |
– 12s rRNA tRNA Thr tRNAThr – |
Non coding Non coding Non coding Non coding Non coding |
Reported polymorphism Reported polymorphism Reported polymorphism Reported polymorphism Reported polymorphism |
| 1321N1 | 6340 | C > C/T | Yes | MT-CO1 | − | Thr to Ile | Reported polymorphism |
| & somatic mutation in | |||||||
| Prostate cancer | |||||||
| 10261 | A > A/G | Yes | MT-ND3 | − | Synonymous | Novel changes | |
| 11466 | T > G/T | Yes | MT-ND4 | − | Synonymous | Novel changes | |
| 12307 | A > A/G | Yes | MT-TL2 | tRNALeu | Non coding | Reported polymorphism | |
| 12309 | A > A/G | Yes | MT-TL2 | tRNALeu | Non coding | Reported polymorphism | |
| 14181 | A > A/C | Yes | MT-ND6 | − | Tyr to Asp | Novel changes | |
| SW1783 | 7049 7964 |
A > G T > C |
No No |
MT-CO1 MT-CO2 |
– – |
Synonymous Phe to Leu |
Reported polymorphism Reported polymorphism |
| LN18 | 3009 | C > A/T | Yes | MT-RNR2 | 16s rRNA | Non coding | Novel changes |
| 13194 | G > C/G | Yes | − | ||||
| 13911 | A > G | No | MT-ND5 | − | Synonymous | Novel changes | |
| 14980 | C > C/T | Yes | MT-ND5 | Synonymous | Reported polymorphism | ||
| 16153 | G > A | No | − | ||||
| MT-CYB | Synonymous | Reported polymorphism | |||||
| MT-DLOOP | Non coding | Reported polymorphism |
Sequence changes found in all 3 different grades of glioma cell lines and a normal human astrocyte cell line after filtering out phylogenetically related polymorphism sites. All sequence changes were labeled as novel changes if no previous reports could be retrieved from MITOMAP database (last edited 22 May 2016: MITOMAP: Reported Mitochondrial DNA Base Substitution Diseases rRNA/tRNA Mutations. 20 May 2016: MITOMAP: Reported Mitochondrial DNA Base Substitution Diseases: Coding and Control Region).
List of abbreviations: MT-DLOOP (regulatory region of the mtDNA), MT-RNR1 (mitochondrially encoded 12S RNA gene), MT-TT (mitochondrially encoded tRNA Threonine gene), MT-CO1 (Mitochondrial Cytochrome Oxidase Subunit 1 gene), MT-ND3 (Mitochondrial NADH Dehydrogenase 3 gene), MT-ND4 (Mitochondrial NADH Dehydrogenase 4 gene), MT-TL2 (Mitochondrially encoded tRNA Leucine 2 gene), MT-ND6 (Mitochondrial NADH Dehydrogenase 6 gene), MT-CO2 (Mitochondrial Cytochrome Oxidase Subunit 2 gene), MT-RNR2 (mitochondrially encoded 12S RNA gene), MT-ND5 (Mitochondrial NADH Dehydrogenase 5 gene), MT-CYB(mitochondrially encoded Cytochrome B gene), rRNA (ribosomal ribonucleic acid), tRNA (transfer ribonucleic acid), Thr (Threonine), Leu (Leucine), Ile (Isoleucine), Tyr (Tyrosine), Asp (Asparagine), Phe (Phenylalanine).