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