title: Historical perspective on mitochondrial medicine.
abstract: In this review, we trace the origins and follow the development of mitochondrial medicine from the premolecular era (1962-1988) based on clinical clues, muscle morphology, and biochemistry into the molecular era that started in 1988 and is still advancing at a brisk pace. We have tried to stress conceptual advances, such as endosymbiosis, uniparental inheritance, intergenomic signaling and its defects, and mitochondrial dynamics. We hope that this historical review also provides an update on mitochondrial medicine, although we fully realize that the speed of progress in this area makes any such endeavor akin to writing on water.
authors.affiliation: Columbia University Medical Center, College of Physicians & Surgeons, 630 West 168th Street, New York, NY 10032, USA. sd12@columbia.edu
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
authors.forename: Caterina
authors.initials: C
authors.lastname: Garone
mesh_terms: D004272:DNA, Mitochondrial / Q000266:history*; D002658:Developmental Disabilities / Q000266:history*; D049673:History, 20th Century; D006801:Humans; D028361:Mitochondrial Diseases / Q000266:history*
chemical_list: D004272:DNA, Mitochondrial
references.citation: Hum Genet. 2003 Jul;113(2):118-22
references.pmid: 12709789
references.citation: Am J Hum Genet. 1991 Mar;48(3):492-501
references.pmid: 1998336
references.citation: J Neurol Sci. 1976 Feb;27(2):217-32
references.pmid: 1249587
references.citation: Ann Neurol. 2007 Jan;61(1):73-83
references.pmid: 17262856
references.citation: Brain. 2007 Nov;130(Pt 11):3032-40
references.pmid: 17921179
references.citation: Acta Neuropathol. 1987;74(3):248-58
references.pmid: 2823522
references.citation: Mol Genet Metab. 2010 Jul;100(3):251-6
references.pmid: 20382551
references.citation: Hum Mol Genet. 2007 May 15;16(10):1241-52
references.pmid: 17403714
references.citation: Nature. 1990 Dec 13;348(6302):651-3
references.pmid: 2102678
references.citation: Nat Genet. 1998 Dec;20(4):337-43
references.pmid: 9843204
references.citation: Am J Hum Genet. 2006 Feb;78(2):345-9
references.pmid: 16400613
references.citation: Ann Neurol. 1985 Jun;17(6):521-38
references.pmid: 3927817
references.citation: Ann Neurol. 1984 Oct;16(4):481-8
references.pmid: 6093682
references.citation: Ann Med. 2005;37(3):222-32
references.pmid: 16019721
references.citation: Mol Cell Biol. 1995 May;15(5):2872-81
references.pmid: 7739567
references.citation: Science. 1964 Jul 31;145(3631):493-6
references.pmid: 14163769
references.citation: Nat Genet. 2007 Apr;39(4):534-9
references.pmid: 17384640
references.citation: Cell. 1990 Jun 15;61(6):931-7
references.pmid: 2112427
references.citation: Biochemistry. 2006 Jan 24;45(3):746-54
references.pmid: 16411750
references.citation: Am J Hum Genet. 2000 Nov;67(5):1104-9
references.pmid: 11013136
references.citation: Proc Natl Acad Sci U S A. 1990 Apr;87(8):3147-50
references.pmid: 1970180
references.citation: Am J Hum Genet. 1995 Oct;57(4):772-80
references.pmid: 7573035
references.citation: Brain Pathol. 2000 Jul;10(3):431-41
references.pmid: 10885662
references.citation: Nature. 2010 May 6;465(7294):82-5
references.pmid: 20393463
references.citation: J Biomed Biotechnol. 2010;2010:737385
references.pmid: 20396601
references.citation: J Biol Chem. 2004 Oct 8;279(41):42612-8
references.pmid: 15292198
references.citation: J Neurol Sci. 1980 Jul;47(1):117-33
references.pmid: 6774061
references.citation: Am J Hum Genet. 2003 Jan;72(1):101-14
references.pmid: 12474143
references.citation: J Clin Invest. 1970 Mar;49(3):423-32
references.pmid: 4313434
references.citation: J Neurol Sci. 1983 Dec;62(1-3):327-55
references.pmid: 6142097
references.citation: Biochim Biophys Acta. 2009 Dec;1792(12):1109-12
references.pmid: 19748572
references.citation: Neurology. 1988 Sep;38(9):1339-46
references.pmid: 3412580
references.citation: Mol Genet Metab. 2002 Feb;75(2):97-107
references.pmid: 11855928
references.citation: Neurology. 2004 Sep 28;63(6):1108-10
references.pmid: 15452312
references.citation: Hum Mol Genet. 2000 May 1;9(8):1245-9
references.pmid: 10767350
references.citation: Ann Neurol. 2001 Mar;49(3):377-83
references.pmid: 11261513
references.citation: Annu Rev Neurosci. 2008;31:91-123
references.pmid: 18333761
references.citation: J Clin Invest. 2003 Jun;111(12):1913-21
references.pmid: 12813027
references.citation: Am J Hum Genet. 2006 Dec;79(6):1125-9
references.pmid: 17186472
references.citation: Biochem Biophys Res Commun. 1964 Mar 9;15(2):127-32
references.pmid: 26410904
references.citation: Nature. 1989 May 25;339(6222):309-11
references.pmid: 2725645
references.citation: J Cell Biol. 1963 Dec;19:593-611
references.pmid: 14086138
references.citation: J Med Genet. 2004 Feb;41(2):120-4
references.pmid: 14757859
references.citation: N Engl J Med. 2004 Nov 11;351(20):2080-6
references.pmid: 15537906
references.citation: Brain. 1986 Oct;109 ( Pt 5):915-38
references.pmid: 3779373
references.citation: Am J Hum Genet. 2004 Feb;74(2):239-52
references.pmid: 14732903
references.citation: Blood Cells Mol Dis. 2002 Nov-Dec;29(3):444-50
references.pmid: 12547234
references.citation: N Engl J Med. 1994 Apr 7;330(14):962-8
references.pmid: 8121460
references.citation: Science. 1973 Mar 2;179(4076):899-902
references.pmid: 4687787
references.citation: Nat Genet. 2001 Jul;28(3):223-31
references.pmid: 11431692
references.citation: Mitochondrion. 2007 May;7(3):230-3
references.pmid: 17300999
references.citation: EMBO Rep. 2008 Jan;9(1):42-9
references.pmid: 18174896
references.citation: Proc Natl Acad Sci U S A. 2003 Jan 21;100(2):605-10
references.pmid: 12529507
references.citation: Ann Neurol. 2008 Jan;63(1):35-9
references.pmid: 17886296
references.citation: N Engl J Med. 2007 Feb 22;356(8):809-19
references.pmid: 17314340
references.citation: Pediatrics. 1977 Dec;60(6):850-7
references.pmid: 202917
references.citation: Ann Neurol. 2007 Dec;62(6):579-87
references.pmid: 17722119
references.citation: Nat Genet. 2001 Nov;29(3):337-41
references.pmid: 11687800
references.citation: Biochim Biophys Acta. 2009 Oct;1788(10):2059-68
references.pmid: 19422785
references.citation: Brain. 2003 Aug;126(Pt 8):1905-12
references.pmid: 12805096
references.citation: Nat Genet. 2000 Oct;26(2):211-5
references.pmid: 11017080
references.citation: Neurology. 1975 Jan;25(1):16-24
references.pmid: 234182
references.citation: Am J Hum Genet. 2009 Jun;84(6):718-27
references.pmid: 19463981
references.citation: Science. 1999 Jan 29;283(5402):689-92
references.pmid: 9924029
references.citation: Am J Hum Genet. 2008 Oct;83(4):468-78
references.pmid: 18940309
references.citation: Hum Mol Genet. 2008 Jun 15;17(12):1814-20
references.pmid: 18337306
references.citation: N Engl J Med. 1989 May 18;320(20):1293-9
references.pmid: 2541333
references.citation: Brain. 1966 Mar;89(1):133-58
references.pmid: 5910899
references.citation: Trends Genet. 2005 Jun;21(6):312-4
references.pmid: 15922826
references.citation: J Biol Chem. 2006 Dec 22;281(51):39217-24
references.pmid: 17082194
references.citation: J Clin Invest. 1962 Sep;41:1776-804
references.pmid: 14467237
references.citation: Nat Genet. 1999 Nov;23(3):333-7
references.pmid: 10545952
references.citation: Am J Hum Genet. 2007 Oct;81(4):857-62
references.pmid: 17847012
references.citation: N Engl J Med. 1999 Sep 30;341(14):1037-44
references.pmid: 10502593
references.citation: Am J Hum Genet. 2008 Jul;83(1):30-42
references.pmid: 18571143
references.citation: Neuromuscul Disord. 2009 Feb;19(2):143-6
references.pmid: 19162478
references.citation: Am J Hum Genet. 1998 Dec;63(6):1609-21
references.pmid: 9837813
references.citation: Brain. 2008 Feb;131(Pt 2):329-37
references.pmid: 18065439
references.citation: Isr J Med Sci. 1977 Feb;13(2):161-4
references.pmid: 863679
references.citation: Biochem Biophys Res Commun. 2000 Dec 20;279(2):378-82
references.pmid: 11118295
references.citation: Nat Genet. 2000 Oct;26(2):207-10
references.pmid: 11017079
references.citation: Brain. 2010 Mar;133(Pt 3):771-86
references.pmid: 20157015
references.citation: Mol Cell Biol. 1992 Feb;12(2):480-90
references.pmid: 1732728
references.citation: Am J Hum Genet. 2008 Mar;82(3):623-30
references.pmid: 18319072
references.citation: Gastroenterology. 1965 May;48:625-33
references.pmid: 14280390
references.citation: J Clin Invest. 2005 Oct;115(10):2784-92
references.pmid: 16200211
references.citation: Nature. 1988 Feb 25;331(6158):717-9
references.pmid: 2830540
references.citation: J Am Coll Cardiol. 2003 May 21;41(10):1786-96
references.pmid: 12767666
references.citation: Science. 1973 Nov 20;182(4115):929-31
references.pmid: 4745596
references.citation: Neurology. 2006 Oct 24;67(8):1458-60
references.pmid: 16971696
references.citation: Am J Hum Genet. 1999 Jun;64(6):1505-10
references.pmid: 10330338
references.citation: Am J Hum Genet. 2002 May;70(5):1328-32
references.pmid: 11898127
references.citation: FEBS Lett. 2006 Oct 9;580(23):5450-5
references.pmid: 16973164
references.citation: Hum Mol Genet. 2002 Mar 1;11(5):477-86
references.pmid: 11875042
references.citation: J Med Genet. 2006 May;43(5):385-93
references.pmid: 16055927
references.citation: Am J Hum Genet. 2004 Jun;74(6):1303-8
references.pmid: 15108122
references.citation: Nat Genet. 1996 Apr;12(4):385-9
references.pmid: 8630491
references.citation: Science. 1989 Oct 27;246(4929):500-3
references.pmid: 2814477
references.citation: Ann Neurol. 2004 Nov;56(5):734-8
references.pmid: 15505824
references.citation: Science. 2000 Aug 4;289(5480):782-5
references.pmid: 10926541
references.citation: Biochim Biophys Acta. 2004 Dec 6;1659(2-3):115-20
references.pmid: 15576042
references.citation: Neurology. 1963 Nov;13:919-23
references.pmid: 14079951
references.citation: Proc Natl Acad Sci U S A. 1994 Sep 13;91(19):8731-8
references.pmid: 8090715
references.citation: J Inherit Metab Dis. 2009 Apr;32(2):143-58
references.pmid: 19125351
references.citation: J Cell Biol. 1963 Dec;19:613-29
references.pmid: 14086139
references.citation: Nature. 2009 Sep 17;461(7262):367-72
references.pmid: 19710649
references.citation: J Inherit Metab Dis. 2006 Aug;29(4):499-515
references.pmid: 16838076
references.citation: Hum Mol Genet. 2003 Oct 15;12(20):2693-702
references.pmid: 12928484
references.citation: Nat Genet. 2001 Jul;28(3):211-2
references.pmid: 11431686
references.citation: Am J Hum Genet. 2008 Mar;82(3):661-72
references.pmid: 18319074
references.citation: Am J Hum Genet. 2008 Aug;83(2):254-60
references.pmid: 18674747
references.citation: Biochim Biophys Acta. 2009 Dec;1792(12):1103-8
references.pmid: 19596444
references.citation: J Biol Chem. 2005 Aug 19;280(33):29403-8
references.pmid: 15972817
references.citation: J Biol Chem. 2000 Jun 23;275(25):19198-209
references.pmid: 10858457
references.citation: Arch Neurol. 1970 Aug;23(2):103-12
references.pmid: 5430330
references.citation: J Theor Biol. 1967 Mar;14(3):255-74
references.pmid: 11541392
references.citation: EMBO J. 2007 Jul 11;26(13):3227-37
references.pmid: 17557076
references.citation: Am J Hum Genet. 2008 Jan;82(1):32-8
references.pmid: 18179882
references.citation: Ophthalmic Genet. 2008 Mar;29(1):17-24
references.pmid: 18363168
references.citation: Hum Mol Genet. 2005 Apr 15;14(8):1087-94
references.pmid: 15772096
references.citation: N Engl J Med. 2002 Aug 22;347(8):576-80
references.pmid: 12192017
references.citation: J Bioenerg Biomembr. 2001 Jun;33(3):259-66
references.pmid: 11695836
references.citation: Ann Intern Med. 1971 Apr;74(4):548-58
references.pmid: 4251634
references.citation: Am J Hum Genet. 2008 Jun;82(6):1281-9
references.pmid: 18499082
references.citation: Science. 1988 Dec 9;242(4884):1427-30
references.pmid: 3201231
references.citation: Brain. 2009 Nov;132(Pt 11):3165-74
references.pmid: 19720722
references.citation: Nat Genet. 2002 Feb;30(2):145-6
references.pmid: 11799391
references.citation: Nat Genet. 2004 May;36(5):449-51
references.pmid: 15064763
references.citation: Nat Genet. 1995 Oct;11(2):144-9
references.pmid: 7550341
references.citation: Nat Genet. 2008 Nov;40(11):1288-90
references.pmid: 18953340
references.citation: Neuromuscul Disord. 2004 Jan;14(1):107-16
references.pmid: 14702949
references.citation: FASEB J. 2008 Jun;22(6):1874-85
references.pmid: 18230681
references.citation: Hum Reprod. 2001 Mar;16(3):513-6
references.pmid: 11228222
references.citation: Am J Hum Genet. 2006 Jun;78(6):1026-34
references.pmid: 16685652
references.citation: Am J Hum Genet. 2007 Aug;81(2):228-33
references.pmid: 17668373
references.citation: Nat Genet. 2001 Nov;29(3):342-4
references.pmid: 11687801