title: Mitochondrial DNA mutations in disease and aging.
abstract: The small mammalian mitochondrial DNA (mtDNA) is very gene dense and encodes factors critical for oxidative phosphorylation. Mutations of mtDNA cause a variety of human mitochondrial diseases and are also heavily implicated in age-associated disease and aging. There has been considerable progress in our understanding of the role for mtDNA mutations in human pathology during the last two decades, but important mechanisms in mitochondrial genetics remain to be explained at the molecular level. In addition, mounting evidence suggests that most mtDNA mutations may be generated by replication errors and not by accumulated damage.
authors: Institute for Medical Sciences, Ajou University School of Medicine, Suwon 443-721, Korea.
authors: Chan Bae
authors: CB
authors: Park
authors: Nils-Göran
authors: NG
authors: Larsson
references: J Immunol. 1996 May 1;156(9):3301-7
references: 8617953
references: Nat Genet. 2010 Jun;42(6):471-2; author reply 472-3
references: 20502486
references: Cell. 1982 Apr;28(4):693-705
references: 6178513
references: Mol Biol Cell. 2003 Apr;14(4):1583-96
references: 12686611
references: Mech Ageing Dev. 2004 Oct-Nov;125(10-11):811-26
references: 15541775
references: Hum Mol Genet. 2008 Aug 15;17(16):2433-40
references: 18467430
references: J Neurol Neurosurg Psychiatry. 1951 Aug;14(3):216-21
references: 14874135
references: Proc Natl Acad Sci U S A. 2000 Dec 19;97(26):14461-6
references: 11106380
references: Cell. 1983 Aug;34(1):151-9
references: 6883508
references: Acta Neuropathol. 1990;80(5):541-6
references: 2251912
references: Nature. 1993 Jan 28;361(6410):365-9
references: 8381212
references: PLoS Genet. 2010 Oct 14;6(10):e1001161
references: 20976251
references: Science. 2008 Feb 15;319(5865):958-62
references: 18276892
references: Nat Genet. 2002 Jul;31(3):289-94
references: 12068295
references: Proc Natl Acad Sci U S A. 1985 Jul;82(13):4443-7
references: 3892535
references: Nat Rev Genet. 2008 Sep;9(9):657-62
references: 18695671
references: Annu Rev Cell Biol. 1991;7:453-78
references: 1809353
references: Neurology. 1988 Sep;38(9):1339-46
references: 3412580
references: Hum Mol Genet. 2004 Dec 15;13(24):3219-27
references: 15509589
references: Proc Natl Acad Sci U S A. 2010 Jun 29;107(26):11835-40
references: 20547844
references: Hum Mol Genet. 2005 Jul 1;14(13):1775-83
references: 15888483
references: Cell Metab. 2008 Sep;8(3):249-56
references: 18762025
references: Environ Mol Mutagen. 2010 Jun;51(5):360-79
references: 20544879
references: Mol Cell. 2001 Jan;7(1):43-54
references: 11172710
references: Nat Genet. 2000 Oct;26(2):176-81
references: 11017072
references: Cell. 2009 Oct 16;139(2):312-24
references: 19837034
references: Nat Genet. 2008 Feb;40(2):249-54
references: 18223651
references: Hum Mol Genet. 2005 Apr 15;14(8):1069-76
references: 15757973
references: Nature. 1998 Nov 12;396(6707):133-40
references: 9823893
references: Nat Genet. 1997 May;16(1):93-5
references: 9140402
references: Cell Metab. 2009 Apr;9(4):386-97
references: 19356719
references: Nature. 1974 Oct 11;251(5475):536-8
references: 4423884
references: Nat Genet. 2001 Jul;28(3):223-31
references: 11431692
references: Nat Genet. 2007 Mar;39(3):386-90
references: 17293866
references: Circulation. 2005 Aug 2;112(5):683-90
references: 16043643
references: Nature. 1983 Nov 24-30;306(5941):400-2
references: 6646218
references: Nat Genet. 2007 Jun;39(6):776-80
references: 17486094
references: J Biol Chem. 2010 Jun 11;285(24):18129-33
references: 20410300
references: PLoS Genet. 2009 Dec;5(12):e1000756
references: 19997484
references: Annu Rev Genet. 1995;29:151-78
references: 8825472
references: Exp Cell Res. 2007 Nov 1;313(18):3924-34
references: 17662273
references: Am J Med Genet. 2001 Spring;106(1):4-17
references: 11579420
references: Nat Genet. 2008 Apr;40(4):392-4
references: 18311139
references: Hum Mol Genet. 2009 Jan 15;18(2):278-88
references: 18945718
references: Cold Spring Harb Symp Quant Biol. 2005;70:363-74
references: 16869773
references: Cell Metab. 2011 Apr 6;13(4):361-366
references: 21459321
references: Proc Natl Acad Sci U S A. 2003 Nov 11;100(23):13207-12
references: 14576278
references: J Cell Sci. 2004 Jun 1;117(Pt 13):2653-62
references: 15138283
references: Proc Natl Acad Sci U S A. 2009 Dec 1;106(48):20405-10
references: 19918075
references: Annu Rev Biochem. 2007;76:679-99
references: 17408359
references: Cell. 2009 Nov 25;139(5):934-44
references: 19945377
references: J Exp Med. 2010 Oct 25;207(11):2297-305
references: 20937705
references: Ann N Y Acad Sci. 2010 Jul;1201:21-5
references: 20649534
references: J Cell Biol. 2008 Dec 1;183(5):795-803
references: 19029340
references: Cell. 2010 Jun 11;141(6):982-93
references: 20550934
references: Pediatr Res. 1990 Aug;28(2):131-6
references: 2395603
references: Cell Metab. 2009 Jun;9(6):499-511
references: 19490905
references: Hum Mol Genet. 2005 Apr 1;14(7):893-902
references: 15703189
references: Nat Genet. 2003 Aug;34(4):440-5
references: 12858174
references: Trends Genet. 2006 Feb;22(2):90-5
references: 16364493
references: Nat Rev Mol Cell Biol. 2007 Nov;8(11):870-9
references: 17928812
references: Cell. 2005 Dec 29;123(7):1227-40
references: 16377564
references: Cell. 2000 Mar 3;100(5):515-24
references: 10721989
references: PLoS Biol. 2008 Jan;6(1):e10
references: 18232733
references: Nature. 1988 Feb 25;331(6158):717-9
references: 2830540
references: Mol Biol Cell. 2007 Sep;18(9):3225-36
references: 17581862
references: Nucleic Acids Res. 2009 Apr;37(7):2327-35
references: 19244310
references: Biochem J. 2009 Jan 1;417(1):1-13
references: 19061483
references: Am J Hum Genet. 1992 Dec;51(6):1201-12
references: 1463006
references: Hum Mol Genet. 2006 Mar 15;15(6):871-81
references: 16449238
references: Cell. 1989 Jul 28;58(2):391-7
references: 2752429
references: Novartis Found Symp. 2001;235:247-63; discussion 263-6
references: 11280029
references: Exp Cell Res. 1991 Sep;196(1):137-40
references: 1715276
references: Science. 2005 Feb 4;307(5710):714-7
references: 15692048
references: PLoS Biol. 2010 Jan 26;8(1):e1000298
references: 20126261
references: Mol Cell Biol. 2003 Aug;23(16):5816-24
references: 12897151
references: Brain. 2004 Oct;127(Pt 10):2153-72
references: 15358637
references: Nat Genet. 1999 Jan;21(1):133-7
references: 9916807
references: J Gerontol A Biol Sci Med Sci. 2009 Dec;64(12):1212-20
references: 19776219
references: Cell. 1977 Aug;11(4):719-27
references: 560914
references: Genes Dev. 2005 Oct 15;19(20):2466-76
references: 16230534
references: Annu Rev Biochem. 2007;76:781-821
references: 17506638
references: Proc Natl Acad Sci U S A. 2001 Mar 27;98(7):4038-43
references: 11259653
references: Trends Genet. 2003 Dec;19(12):709-16
references: 14642752
references: Nat Genet. 2008 Dec;40(12):1484-8
references: 19029901
references: Cell. 2007 Jul 27;130(2):273-85
references: 17662942
references: Mol Cell Biol. 1991 Mar;11(3):1631-7
references: 1996112
references: Proc Natl Acad Sci U S A. 2005 Dec 13;102(50):17993-8
references: 16332961
references: Hum Mol Genet. 2004 May 1;13(9):935-44
references: 15016765
references: Autophagy. 2009 Jul;5(5):706-8
references: 19377297
references: Cell. 2009 Oct 16;139(2):231-3
references: 19837028
references: PLoS Genet. 2011 Mar;7(3):e1002028
references: 21455489
references: Biochim Biophys Acta. 2009 May;1787(5):296-302
references: 19366608
references: Hum Mol Genet. 2008 May 15;17(10):1418-26
references: 18245781
references: Biochem Biophys Res Commun. 2010 Oct 8;401(1):26-31
references: 20816751
references: Proc Natl Acad Sci U S A. 2005 Dec 6;102(49):17687-92
references: 16301523
references: Mol Cell. 2003 Mar;11(3):807-15
references: 12667461
references: Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):15066-71
references: 12417746
references: Cell. 1990 Mar 23;60(6):971-80
references: 2317868
references: J Biol Chem. 2008 Feb 8;283(6):3665-3675
references: 18063578
references: Proc Natl Acad Sci U S A. 2007 Jan 23;104(4):1325-30
references: 17227870
references: Science. 2005 Jul 15;309(5733):481-4
references: 16020738
references: Comp Funct Genomics. 2003;4(1):31-6
references: 18629105
references: Mol Biol Evol. 2006 Jun;23(6):1169-79
references: 16533820
references: Hum Mol Genet. 2008 Aug 1;17(15):2329-35
references: 18434326
references: Nature. 1990 Jul 26;346(6282):376-9
references: 2165219
references: Cell Metab. 2010 Dec 1;12(6):675-82
references: 21109200
references: J Neurosci. 2001 Oct 15;21(20):8082-90
references: 11588181
references: Science. 1991 May 17;252(5008):965-9
references: 2035027
references: Hum Mol Genet. 2010 Jul 1;19(13):2695-705
references: 20413656
references: Annu Rev Biochem. 2007;76:751-80
references: 17362197
references: Biochem Biophys Res Commun. 2010 Jul 2;397(3):386-90
references: 20430012
references: Nat Genet. 1998 Mar;18(3):231-6
references: 9500544
references: Mol Cell. 2010 Jan 15;37(1):67-78
references: 20129056
references: J Biol Chem. 1971 Apr 25;246(8):2425-9
references: 5553400
references: Neuropathology. 2010 Aug;30(4):401-7
references: 20102525
references: Nat Med. 1999 Aug;5(8):957-60
references: 10426324
references: Nucleic Acids Res. 2007;35(22):7399-405
references: 17913753
references: Annu Rev Biochem. 2010;79:683-706
references: 20350166
references: Cell Metab. 2009 Aug;10(2):131-8
references: 19656491
references: Science. 2008 Feb 15;319(5865):914-5
references: 18276880
references: Science. 1988 Dec 9;242(4884):1427-30
references: 3201231
references: Aging Cell. 2009 Aug;8(4):502-6
references: 19416127
references: Nature. 1997 May 29;387(6632):493-7
references: 9168110
references: J Biol Chem. 1992 Feb 15;267(5):3358-67
references: 1737790
references: Nat Genet. 1996 Oct;14(2):146-51
references: 8841183
references: Nature. 2004 May 27;429(6990):417-23
references: 15164064
references: J Biol Chem. 2006 Dec 8;281(49):37972-9
references: 17003040
references: EMBO J. 2006 Nov 15;25(22):5358-71
references: 17066082
references: Nature. 2008 Jul 10;454(7201):232-5
references: 18454133
references: Nat Genet. 2000 Nov;26(3):336-40
references: 11062475
references: Proc Natl Acad Sci U S A. 1980 Nov;77(11):6715-9
references: 6256757
references: J Biol Chem. 2003 May 16;278(20):18695-701
references: 12637560
references: Hum Mol Genet. 2001 Oct 15;10(22):2469-79
references: 11709534