Table III.
Variations in mtDNA-encoded complex I identified in patients with multiple sclerosis and healthy controls.
Patients with multiple sclerosis | Healthy controls | |||||
---|---|---|---|---|---|---|
Gene | Nucleotide change | No. of nucleotide changes | Frequency (%) | Nucleotide change | No. of nucleotide changes | Frequency (%) |
ND1 | m.3316G>A | 1 | 1.66 | m.3316G>A | 1 | 1.56 |
m.3438G>A | 4 | 6.66 | m.3421G>A | 2 | 3.13 | |
m.3531G>A | 3 | 5 | m.3438G>A | 1 | 1.56 | |
m.3834G>A | 4 | 6.66 | m.3531G>A | 1 | 1.56 | |
m.3915G>A | 1 | 1.66 | m.3666G>A | 1 | 1.56 | |
m.3480A>G | 1 | 1.66 | m.3693G>A | 1 | 1.56 | |
m.3720A>G | 3 | 5 | m.3705G>A | 1 | 1.56 | |
m.3537A>G | 1 | 1.66 | m.3834G>A | 1 | 1.56 | |
m.579A>G | 3 | 5 | m.3915G>A | 1 | 1.56 | |
m.3584A>G | 1 | 1.66 | m.4048G>A | 1 | 1.56 | |
m.3865A>G | 2 | 3.33 | m.3384A>G | 1 | 1.56 | |
m.3948A>G | 1 | 1.66 | m.3480A>G | 5 | 7.813 | |
m.4104A>G | 5 | 8.33 | m.3505A>G | 1 | 1.56 | |
m.4188A>G | 1 | 1.66 | m.3537A>G | 3 | 4.69 | |
m.14340A>G | 1 | 1.66 | m.3768A>G | 1 | 1.56 | |
m.3513C>T | 1 | 1.66 | m.4093A>G | 1 | 1.56 | |
m.3533C>T | 6 | 10 | m.4104A>G | 3 | 4.69 | |
m.3594C>T | 1 | 1.66 | m.4188A>G | 2 | 3.13 | |
m.4059C>T | 1 | 1.66 | m.4225A>G | 1 | 1.56 | |
m.4312C>T | 3 | 5 | m.4231A>G | 1 | 1.56 | |
m.3516C>A | 4 | 6.66 | m.4340A>G | 1 | 1.56 | |
m.3847T>C | 10 | 16.66 | m.4316A>G | 1 | 1.56 | |
m.3866T>C | 4 | 6.66 | m.3336T>C | 1 | 1.56 | |
m.3944T>C | 1 | 1.66 | m.3350T>C | 1 | 1.56 | |
m.4216T>C | 16 | 26.66 | m.3423T>C | 1 | 1.56 | |
m.3847T>C | 7 | 10.94 | ||||
m.4216T>C | 13 | 20.31 | ||||
m.4232T>C | 1 | 1.56 | ||||
m.4336T>C | 1 | 1.56 | ||||
m.3429T>C | 1 | 1.56 | ||||
m.3594T>C | 4 | 6.25 | ||||
m.4312T>C | 1 | 1.56 | ||||
m.3516C>A | 1 | 1.56 | ||||
m.3546C>A | 1 | 1.56 | ||||
ND3 | m.10373T>C | 1 | 1.66 | m.10172T>C | 1 | 1.56 |
m.10289A>G | 1 | 1.66 | m.10325T>C | 1 | 1.56 | |
m.10115T>C | 2 | 3.33 | m.10217A>G | 1 | 1.56 | |
m.10238T>C | 1 | 1.66 | m.10289A>G | 1 | 1.56 | |
m.10355C>T | 1 | 1.66 | m.10295A>G | 1 | 1.56 | |
m.10398A>G | 20 | 31.25 | ||||
m.10238T>C | 2 | 3.13 | ||||
m.10410T>C | 1 | 1.56 | ||||
m.10115T>C | 1 | 1.56 | ||||
m.10343C>T | 1 | 1.56 | ||||
m.10400C>T | 1 | 1.56 | ||||
m.10410T>A | 1 | 1.56 | ||||
NDL4 | m.10586G>A | 1 | 1.66 | m.10589G>A | 1 | 1.56 |
m.10589G>A | 2 | 3.33 | m.10685G>A | 1 | 1.56 | |
m.10688G>A | 2 | 3.33 | m.10688G>A | 2 | 3.13 | |
m.10499A>G | 4 | 6.66 | m.10550A>G | 5 | 7.813 | |
m.10550A>G | 1 | 1.66 | m.10463T>C | 7 | 10.94 | |
m.10664C>T | 2 | 3.33 | ||||
m.10463T>C | 3 | 5 | ||||
ND4 | m.11150G>A | 1 | 1.66 | m.10810T>C | 10 | 15.63 |
m.11176G>A | 3 | 5 | m.10810T>C | 1 | 1.56 | |
m.11377G>A | 3 | 5 | m.10915T>C | 1 | 1.56 | |
m.11440G>A | 4 | 6.66 | m.11025T>C | 1 | 1.56 | |
m.11719G>A | 32 | 53.33 | m.11299T>C | 6 | 9.38 | |
m.10819A>G | 2 | 3.33 | m.10822C>T | 1 | 1.56 | |
m.10876A>G | 3 | 5 | m.11332C>T | 1 | 1.56 | |
m.10895A>G | 1 | 1.66 | m.11674C>T | 1 | 1.56 | |
m.11002A>G | 4 | 6.66 | m.10876A>G | 1 | 1.56 | |
m.11172A>G | 2 | 3.33 | m.11251A>G | 16 | 25 | |
m.11251A>G | 17 | 28.33 | m.11467A>G | 10 | 15.63 | |
m.11337A>G | 1 | 1.66 | m.11530A>G | 1 | 1.56 | |
m.11380A>G | 1 | 1.66 | m.11641A>G | 1 | 1.56 | |
m.11467A>G | 14 | 23.33 | m.11671A>G | 1 | 1.56 | |
m.11530A>G | 1 | 1.66 | m.11708A>G | 1 | 1.56 | |
m.11641A>G | 3 | 5 | m.11719G>A | 29 | 45.31 | |
m.10822C>T | 4 | 6.66 | m.10984C>A | 1 | 1.56 | |
m.11332C>T | 1 | 1.66 | m.11260T>G | 1 | 1.56 | |
m.11527C>T | 1 | 1.66 | ||||
m.10810T>C | 1 | 1.66 | ||||
m.10810T>C | 2 | 3.33 | ||||
m.10873T>C | 11 | 18.33 | ||||
m.10915T>C | 3 | 5 | ||||
m.11299T>C | 1 | 1.66 | ||||
m.11518G>T | 1 | 1.66 | ||||
m.11519A>C | 1 | 1.66 | ||||
m.11523A>C | 1 | 1.66 | ||||
ND5 | m.12372G>A | 13 | 21.66 | m.12372G>A | 1 | 1.56 |
m.12771G>A | 2 | 3.33 | m.12372G>A | 11 | 17.19 | |
m.13316G>A | 1 | 1.66 | m.12501G>A | 2 | 3.13 | |
m.13368G>A | 3 | 5 | m.12771G>A | 1 | 1.56 | |
m.1356G>A | 2 | 3.33 | m.13368G>A | 7 | 10.94 | |
m.13708G>A | 13 | 21.66 | m.13194G>A | 1 | 1.56 | |
m.13813G>A | 4 | 6.66 | m.13708G>A | 9 | 14.06 | |
m.13803G>A | 2 | 3.33 | m.12397G>A | 1 | 1.56 | |
m.12530G>A | 4 | 6.66 | m.12530G>A | 2 | 3.13 | |
m.12612G>A | 15 | 25 | m.12612G>A | 8 | 12.5 | |
m.12693G>A | 2 | 3.33 | m.12654G>A | 2 | 3.13 | |
m.12720G>A | 1 | 1.66 | m.12693G>A | 1 | 1.56 | |
m.12753G>A | 1 | 1.66 | m.12720G>A | 1 | 1.56 | |
m.12720G>A | 2 | 3.33 | m.12810G>A | 1 | 1.56 | |
m.12720G>A | 1 | 1.66 | m.12937G>A | 1 | 1.56 | |
m.13104G>A | 1 | 1.66 | m.12950G>A | 1 | 1.56 | |
m.13105G>A | 3 | 5 | m.13105G>A | 6 | 9.38 | |
m.13276G>A | 3 | 5 | m.13276G>A | 1 | 1.56 | |
m.13542G>A | 2 | 3.33 | m.13470G>A | 1 | 1.56 | |
m.13966G>A | 2 | 3.33 | m.13542G>A | 2 | 3.13 | |
m.14007G>A | 2 | 3.33 | m.13780G>A | 2 | 3.13 | |
m.12615C>T | 1 | 1.66 | m.13803G>A | 2 | 3.13 | |
m.12705C>T | 13 | 21.66 | m.13927G>A | 1 | 1.56 | |
m.13188C>T | 12 | 20 | m.13966G>A | 5 | 7.813 | |
m.13188C>T | 2 | 3.33 | m.13980G>A | 1 | 1.56 | |
m.13506C>T | 3 | 5 | m.13986A>G | 1 | 1.56 | |
m.13650C>T | 4 | 6.66 | m.14013A>G | 1 | 1.56 | |
m.13695C>T | 1 | 1.66 | m.14028A>G | 1 | 1.56 | |
m.14100C>T | 1 | 1.66 | m.14053A>G | 1 | 1.56 | |
m.14110C>T | 2 | 3.33 | m.12633C>A | 2 | 3.13 | |
m.14155C>T | 1 | 1.66 | m.13880C>A | 1 | 1.56 | |
m.14167C>T | 2 | 3.33 | m.12633C>T | 1 | 1.56 | |
m.13111T>C | 1 | 1.66 | m.12705C>T | 14 | 21.88 | |
m.14178T>C | 1 | 1.66 | m.12741C>T | 1 | 1.56 | |
m.13392T>C | 1 | 1.66 | m.13188C>T | 7 | 10.94 | |
m.14094T>C | 3 | 5 | m.13506C>T | 3 | 4.69 | |
m.13547C>T | 1 | 1.56 | ||||
m.13650C>T | 5 | 7.813 | ||||
m.14109C>T | 1 | 1.56 | ||||
m.14167C>T | 4 | 6.25 | ||||
m.12705C>G | 1 | 1.56 | ||||
m.12738T>G | 1 | 1.56 | ||||
m.12950A>C | 2 | 3.13 | ||||
m.12696T>C | 1 | 1.56 | ||||
m.12793T>C | 1 | 1.56 | ||||
m.12903T>C | 1 | 1.56 | ||||
m.12945T>C | 1 | 1.56 | ||||
m.13111T>C | 1 | 1.56 | ||||
m.13215T>C | 1 | 1.56 | ||||
m.13392T>C | 2 | 3.13 | ||||
m.13743T>C | 2 | 3.13 | ||||
m.13752T>C | 3 | 4.69 | ||||
m.13789T>C | 1 | 1.56 | ||||
m.13879T>C | 2 | 3.13 | ||||
m.13965T>C | 1 | 1.56 | ||||
m.14094T>C | 1 | 1.56 | ||||
m.14110T>C | 2 | 3.13 | ||||
ND6 | m.14139A>G | 2 | 3.33 | m.14139A>G | 2 | 3.13 |
m.14233A>G | 2 | 3.33 | m.14203A>G | 1 | 1.56 | |
m.14308T>C | 2 | 3.33 | m.14233A>G | 5 | 7.813 | |
m.14212T>C | 1 | 1.66 | m.14323G>A | 1 | 1.56 | |
m.14305G>A | 1 | 1.66 | m.14239C>T | 1 | 1.56 | |
m.14153T>C | 1 | 1.56 | ||||
m.14178T>C | 3 | 4.69 | ||||
m.14212T>C | 2 | 3.13 |