Table 1 Somatic mtDNA mutations identified in 12 PDCLs

TKCC-02

13,195–14,000

cons

2 bp del

2 bp del

Frameshift

ND5

I

Similar region- colorectal cancer: Polyak 1998

TKCC-03

310

C/T

T

T

-

HVSII

-

311

C/T

C

C

-

HVSII

-

8276.3–8276.4

CC ins

::

::

-

NC7

-

15,692–15,694

ATA

::: del

::: del

M316Δ

CytB

III

T15693C LVNC cardiomyopathy: Tang 2010

TKCC-04

15,873

T

-

C/T

M376T

CytB

III

NOVEL

TKCC-07

309.3

:

-

C ins

-

HVSII

-

Alzheimer’s: Tanaka 2010

4971

G

-

A

G168S

ND2

I

NOVEL

7211

G

-

A

M436M

COI

IV

11,361

T

-

C

M201T

ND4

I

12,731

T

-

C

V132A

ND5

I

NOVEL

13,579

G

-

A

A415T

ND5

I

NOVEL

14,207

G (C reverse)

-

A (T reverse)

T156I

ND6

I

16,092

C

-

T

-

HVSI

-

TKCC-09

4137

C

T

T

Y277Y

NDI

I

16,188.1

:

:

C ins

-

HVSI

-

TKCC-10

438

C

C/T

T

-

L strand promoter

-

TKCC-15-LO

4560

G

-

C/g

W30S

ND2

I

NOVEL

TKCC-16-LO

14,686

G

-

G/a

-

TE (tRNA)

-

NOVEL

TKCC-17-LO

6029

C

-

T/c

G42G

COI

IV

TKCC-18-LO

15,557

G

-

A

Q271K

CytB

III

NOVEL

16,126

C

-

T (wt ref. seq)

-

HVSI

-

Glioblastoma T > C Kirches 2001, Brandon 2006

TKCC-19-LO

309.1–309.2

C

CC

CC

-

HVSII

-

TKCC-26-LO

12,508

G

-

A

P58N

ND5

I

NOVEL