Table 3.
The percentage of heteroplasmic clones that are distributed on the regulatory elements of mtDNA RCR in AD, DS, DSAD, and control brains and peripheral tissues
| Brains |
Lymphoblastoid cell lines |
Cell free DNA |
||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| All CTR | CTR | AD | CTR | DSAD | CTR | DS | CTR | AD | DSAD | DS | CTR | AD | ||
| Total clone → | 658 | 250 | 262 | 226 | 377 | 182 | 470 | 112 | 164 | 137 | 172 | 177 | 135 | |
| Locus | nt span | |||||||||||||
| 1–212 | 4.7% | 4.4% | 8.4% | 2.2% | 6.6% | 0.5% | 2.1% | 2.7% | 5.0% | 3.6% | 0.6% | 1.7% | 3.7% | |
| CSBI | 213–35 | 0% | 0.8% | 0.4% | 0% | 0.3% | 0% | 0.2% | 0% | 1.0% | 1.5% | 0.0% | 1.1% | 0% |
| TFX | 233–60 | 0% | 0% | 0.8% | 0% | 0.3% | 0% | 0% | 0% | 1.0% | 0.7% | 0% | 0% | 0% |
| TFY | 276–303 | 1.0% | 1.2% | 0.8% | 0.4% | 0% | 0% | 0.2% | 0% | 0.0% | 0% | 0% | 0.6% | 0.7% |
| CSBII | 299–315 | 4.0% | 4.8% | 10.7%* | 2.2% | 3.2% | 3.8% | 4.5% | 3.6% | 11.0% | 8.8% | 3.5% | 4.5% | 7.4% |
| CSBIII | 346–63 | 0% | 0% | 0% | 0% | 0.3% | 0% | 0.2% | 0% | 1.0% | 0.0% | 0.6% | 0.6% | 0% |
| mt4H | 371–91 | 0% | 0.8% | 0% | 0% | 0% | 0% | 0% | 0% | 2.0% | 0.7% | 0% | 0% | 0% |
| LSP | 392–445 | 1.0% | 1.2% | 2.3% | 0% | 0.8% | 0.5% | 0% | 1.8% | 3.0% | 0.7% | 0.6% | 0.6% | 0.7% |
| TFL | 418–45 | 0% | 0.4% | 0.4% | 0% | 0.3% | 1.0% | 0% | 0% | 2.0% | 0.7% | 0% | 0.6% | 0% |
| TFH | 523–50 | 1.0% | 1.2% | 1.9% | 0.9% | 1.3% | 0.5% | 0.6% | 0% | 2.0% | 1.5% | 1.2% | 0% | 0% |
| HSP1 | 545–67 | 0% | 0% | 0% | 0% | 0.3% | 0% | 0% | 0.9% | 1.0% | 0% | 0% | 0% | 0% |
*
p = 0.01 Fisher test when AD CSBII values compared to controls. CSBI, II, III: Conserved Sequence Blocks 1, 2, 3; TFX and TFY: mitochondrial transcription factor A (TFAM) binding sites other than promoters; TFL and TFH: TFAM binding site for L-Strand Promoter (LSP) and H-Strand promoter (HSP); mt4H: H-strand control element, CTR: controls, nt: nucleotide.