References
Abrahams
JP
,
Abrahams
JP
,
Leslie
AG
,
Lutter
R
and
Walker
JE
(1994) Structure at 2.8 A resolution of F1‐ATPase from bovine heart mitochondria. Nature
370 (6491): 621–628.
Alston
CL
,
Rocha
MC
,
Lax
NZ
,
Turnbull
DM
and
Taylor
RW
(2017) The genetics and pathology of mitochondrial disease. Journal of Pathology
241 (2): 236–250.
Andreu
AL
,
Hanna
MG
,
Reichmann
H
, et al. (1999) Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. New England Journal of Medicine
341 (14): 1037–1044.
Baertling
F
,
Rodenburg
RJ
,
Schaper
J
, et al. (2014) A guide to diagnosis and treatment of Leigh syndrome. Journal of Neurology, Neurosurgery and Psychiatry
85 (3): 257–265.
Balsa
E
,
Marco
R
,
Perales‐Clemente
E
, et al. (2012) NDUFA4 is a subunit of complex IV of the mammalian electron transport chain. Cell Metabolism
16 (3): 378–386.
Barth
PG
,
Scholte
HR
,
Berden
JA
, et al. (1983) An X‐linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. Journal of Neurological Sciences
62 (1–3): 327–355.
Bayley
JP
,
Kunst
HP
,
Cascon
A
, et al. (2010) SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncology
11 (4): 366–372.
Bourgeron
T
(1995) Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nature Genetics
11: 144–149. DOI: 10.1038/ng1095-144
Crofts
AR
,
Holland
JT
,
Victoria
D
, et al. (2008) The Q‐cycle reviewed: how well does a monomeric mechanism of the bc(1) complex account for the function of a dimeric complex?
Biochimica et Biophysica Acta
1777 (7–8): 1001–1019.
Crosby
AH
,
Patel
H
,
Chioza
BA
, et al. (2010) Defective mitochondrial mRNA maturation is associated with spastic ataxia. American Journal of Human Genetics
87 (5): 655–660.
De
Meirleir
L
,
Seneca
S
,
Lissens
W
, et al. (2004) Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. Journal of Medical Genetics
41 (2): 120–124.
Fornuskova
D
,
Stiburek
L
,
Wenchich
L
, et al.(2010) Novel insights into the assembly and function of human nuclear‐encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b. Biochemical Journal
428 (3): 363–374.
Ghezzi
D
,
Saada
A
,
D'Adamo
P
, et al. (2008) FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. American Journal of Human Genetics
83 (3): 415–423.
Ghezzi
D
,
Goffrini
P
,
Uziel
G
, et al. (2009) SDHAF1, encoding a LYR complex‐II specific assembly factor, is mutated in SDH‐defective infantile leukoencephalopathy. Nature Genetics
41 (6): 654–656.
Ghezzi
D
,
Baruffini
E
,
Haack
TB
, et al. (2012) Mutations of the mitochondrial‐tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. American Journal of Human Genetics
90 (6): 1079–1087.
Guerrero‐Castillo
S
,
Baertling
F
,
Kownatzki
D
, et al. (2017) The assembly pathway of mitochondrial respiratory chain complex I. Cell Metabolism
25 (1): 128–139.
Haack
TB
,
Haberberger
B
,
Frisch
EM
, et al. (2012) Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. Journal of Medical Genetics
49 (4): 277–283.
Hoekstra
AS
and
Bayley
JP
(2013) The role of complex II in disease. Biochimica et Biophysica Acta
1827 (5): 543–551.
Holt
IJ
and
Jacobs
HT
(2014) Unique features of DNA replication in mitochondria: a functional and evolutionary perspective. Bioessays
36 (11): 1024–1031.
Holzerova
E
,
Danhauser
K
,
Haack
TB
, et al. (2016) Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early‐onset neurodegeneration. Brain
139 (Pt 2): 346–354.
Houstek
J
,
Klement
P
,
Floryk
D
, et al. (1999) A novel deficiency of mitochondrial ATPase of nuclear origin. Human Molecular Genetics
8 (11): 1967–1974.
Iwata
S
,
Lee
JW
,
Okada
K
, et al. (1998) Complete structure of the 11‐subunit bovine mitochondrial cytochrome bc1 complex. Science
281 (5373): 64–71.
Jiko
C
,
Davies
KM
,
Shinzawa‐Itoh
K
, et al. (2015) Bovine F1Fo ATP synthase monomers bend the lipid bilayer in 2D membrane crystals. eLife
4: e06119.
Kaukonen
J
,
Juselius
JK
,
Tiranti
V
, et al. (2000) Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science
289 (5480): 782–785.
Lightowlers
RN
,
Taylor
RW
and
Turnbull
DM
(2015) Mutations causing mitochondrial disease: what is new and what challenges remain?
Science
349 (6255): 1494–1499.
Lim
SC
,
Smith
KR
,
Stroud
DA
, et al. (2014) A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. American Journal of Human Genetics
94 (2): 209–222.
Longley
MJ
,
Clark
S
and
Wai
CY
(2006) Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. American Journal of Human Genetics
78 (6): 1026–1034.
Mandel
H
,
Szargel
R
,
Labay
V
, et al. (2001) The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nature Genetics
29 (3): 337–341.
Mayr
JA
,
Haack
TB
,
Graf
E
, et al. (2012) Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. American Journal of Human Genetics
90 (2): 314–320.
Mayr
JA
,
Haack
TB
,
Freisinger
P
, et al. (2015) Spectrum of combined respiratory chain defects. Journal of Inherited Metabolic Disease
38 (4): 629–640.
Mohr
J
and
Mageroy
K
(1960) Sex‐linked deafness of a possibly new type. Acta Genetica et Statistica Medica
10: 54–62.
Mordaunt
DA
,
Jolley
A
,
Balasubramaniam
S
, et al. (2015) Phenotypic variation of TTC19‐deficient mitochondrial complex III deficiency: a case report and literature review. American Journal of Medical Genetics. Part A
167 (6): 1330–1336.
Nouws
J
,
Nijtmans
LG
,
Smeitink
JA
and
Vogel
RO
(2012) Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options. Brain
135 (Pt 1): 12–22.
Ostergaard
E
,
Christensen
E
,
Kristensen
E
, et al. (2007) Deficiency of the alpha subunit of succinate‐coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. American Journal of Human Genetics
81 (2): 383–387.
Ostergaard
E
,
Weraarpachai
W
,
Ravn
K
, et al. (2015) Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature. Journal of Medical Genetics
52 (3): 203–207.
Sanchez‐Caballero
L
,
Ruzzenente
B
,
Bianchi
L
, et al. (2016) Mutations in complex I assembly factor TMEM126B result in muscle weakness and isolated complex I deficiency. American Journal of Human Genetics
99 (1): 208–216.
Schagger
H
,
Brandt
U
,
Gencic
S
and
von
Jagow
G
(1995) Ubiquinol‐cytochrome‐c reductase from human and bovine mitochondria. Methods in Enzymology
260: 82–96.
Sengers
RC
,
Trijbels
JM
,
Willems
JL
,
Daniels
O
and
Stadhouders
AM
(1975) Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise. Journal of Pediatrics
86 (6): 873–880.
Spelbrink
JN
,
Li
FY
,
Tiranti
V
, et al. (2001) Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4‐like protein localized in mitochondria. Nature Genetics
28 (3): 223–231.
Stroud
DA
,
Surgenor
EE
,
Formosa
LE
, et al. (2016) Accessory subunits are integral for assembly and function of human mitochondrial complex I. Nature
538 (7623): 123–126.
Timmers
HJ
,
Gimenez‐Roqueplo
AP
,
Mannelli
M
and
Pacak
K
(2009) Clinical aspects of SDHx‐related pheochromocytoma and paraganglioma. Endocrine‐Related Cancer
16 (2): 391–400.
Van Goethem
G
,
Dermaut
B
,
Lofgren
A
,
Martin
JJ
and
Van
Broeckhoven
C
(2001) Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nature Genetics
28 (3): 211–212.
Van
Vranken
JG
,
Na
U
,
Winge
DR
and
Rutter
J
(2015) Protein‐mediated assembly of succinate dehydrogenase and its cofactors. Critical Reviews in Biochemistry and Molecular Biology
50 (2): 168–180.
Vidoni
S
,
Harbour
ME
,
Guerrero‐Castillo
S
, et al. (2017) MR‐1S interacts with PET100 and PET117 in module‐based assembly of human cytochrome c oxidase. Cell Reports
18 (7): 1727–1738.
Vreken
P
,
Valianpour
F
,
Nijtmans
LG
, et al. (2000) Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome. Biochemical and Biophysical Research Communications
279 (2): 378–382.
Wortmann
SB
,
Vaz
FM
,
Gardeitchik
T
, et al. (2012) Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nature Genetics
44 (7): 797–802.
Xia
D
,
Esser
L
,
Tang
WK
, et al. (2013) Structural analysis of cytochrome bc1 complexes: implications to the mechanism of function. Biochimica et Biophysica Acta
1827 (11–12): 1278–1294.
Zara
V
,
Conte
L
and
Trumpower
BL
(2009) Biogenesis of the yeast cytochrome bc1 complex. Biochimica et Biophysica Acta
1793 (1): 89–96.
Zhu
J
,
Vinothkumar
KR
and
Hirst
J
(2016) Structure of mammalian respiratory complex I. Nature
536 (7616): 354–358.
Further Reading
Web Links
mt DNA and mitochondrial diseases: http://www.nature.com/scitable/topicpage/mtdna‐and‐mitochondrial‐diseases‐903
MITOMAP A human mitochondrial genome database: http://www.mitomap.org/
The MitoProteome Human Mitochondrial Protein Database. Mitochondrial Proteome Database for mitochondria‐related genes, proteins and diseases: http://www.mitoproteome.org/