Table 1. Rare variants identified using Duplex Sequencing in the whole mtDNA of breast normal epithelial cells developed from women (ID#11, #30, #31).
Abbreviations used are: Mt, mitochondrial; GB, gene bank; freq, frequency; MERRF, myoclonic epilepsy with ragged red fibers.
| Mt gene | DNA variant | Amino acid change | Previously reported (GB freq, %)* | Tissues or diseases reported |
|---|---|---|---|---|
| A. Common variants in all sets of non-stem cells from three women | ||||
| RNR1 | C1518T | H291Y | No | New variant |
| TN | A5705C | T17P | No | New variant |
| CO2 | G8251A | None | Yes (6.36%) | Optic neuropathy, type 2 diabetes, Parkinson's disease, thyroid carcinoma, Alzheimer's disease |
| ATP8 | T8567C | S68P | Yes (0.18%) | Parkinson's disease, breast cancer |
| ATP6 | T8567C | I14T | Yes (0.18%) | Parkinson's disease, breast cancer |
| ND4L | C10547G | None | No | New variant |
| ND5 | G12684A | None | Yes (0.10%) | None |
| ND5 | C12705T | None | Yes (39.50%) | Hereditary optic neuropathy, dystonia, respiratory dysfunction, myoclonic epilepsy, MERRF syndrome, Parkinson's disease, schizophrenia, bipolar disorder, major depressive disorder, infantile cardiomyopathy, auditory neuropathy, diabetes, hypertension, Alzheimer's disease, Leigh syndrome |
| ND5 | T13095C | None | Yes (0.09%) | Familial sensorineural hearing impairment |
| ND5 | A13105G | I257V | Yes (6.85%) | Antibiotic-induced and non-syndromic deafness, hereditary optic neuropathy |
| B. Common variants in all sets of stem cells from three women | ||||
| RNR1 | G1476A | V277M | No | New variant |
| ATP6 | A8577C | None | No | New variant |
| ND5 | G12684A | None | Yes (0.10%) | None |
| ND5 | C12705T | None | Yes (39.50%) | Hereditary optic neuropathy, dystonia, respiratory dysfunction, myoclonic epilepsy, MERRF syndrome, Parkinson's disease, schizophrenia, bipolar disorder, major depressive disorder, infantile cardiomyopathy, auditory neuropathy, diabetes, hypertension, Alzheimer's disease, Leigh syndrome |
| ND5 | A13062G | None | Yes (0.04%) | None |
| ND5 | T13095C | None | Yes (0.09%) | Familial sensorineural hearing impairment |
| ND5 | A13105G | I257V | Yes (6.85%) | Antibiotic-induced and non-syndromic deafness, hereditary optic neuropathy |
| C. Common variants found in all sets of both non-stem and stem cells from three women | ||||
| ND5 | G12684A | None | Yes (0.10%) | None |
| ND5 | C12705T | None | Yes (39.50%) | Hereditary optic neuropathy, dystonia, respiratory dysfunction, myoclonic epilepsy, MERRF syndrome, Parkinson's disease, schizophrenia, bipolar disorder, major depressive disorder, infantile cardiomyopathy, auditory neuropathy, diabetes, hypertension, Alzheimer's disease, Leigh syndrome |
| ND5 | T13095C | None | Yes (0.09%) | Familial sensorineural hearing impairment |
| ND5 | A13105G | I257V | Yes (6.85%) | Antibiotic-induced and non-syndromic deafness, hereditary optic neuropathy |
| D. Variants found only in all sets of non-stem, but not in stem cells | ||||
| ATP8 | T8567C | S68P | Yes (0.18%) | Parkinson's Disease, breast Cancer |
| ATP6 | T8567C | I14T | Yes (0.18%) | Parkinson's Disease, breast Cancer |
| ND4L | C10547G | None | No | New variant |
| E. Variants found only in all sets of stem cells, but not in non-stem cells | ||||
| None | ||||
* The gene bank (GB) frequency data is derived from 26850 GeneBank sequences with size greater than 14kbp (www.mitomap.org).