PMID- 10545952
OWN - NLM
STAT- MEDLINE
DCOM- 19991207
LR  - 20131121
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 23
IP  - 3
DP  - 1999 Nov
TI  - Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in
      SCO2, a COX assembly gene.
PG  - 333-7
AB  - Mammalian cytochrome c oxidase (COX) catalyses the transfer of reducing
      equivalents from cytochrome c to molecular oxygen and pumps protons across the
      inner mitochondrial membrane. Mitochondrial DNA (mtDNA) encodes three COX
      subunits (I-III) and nuclear DNA (nDNA) encodes ten. In addition, ancillary
      proteins are required for the correct assembly and function of COX (refs 2, 3, 4,
      5, 6). Although pathogenic mutations in mtDNA-encoded COX subunits have been
      described, no mutations in the nDNA-encoded subunits have been uncovered in any
      mendelian-inherited COX deficiency disorder. In yeast, two related COX assembly
      genes, SCO1 and SCO2 (for synthesis of cytochrome c oxidase), enable subunits I
      and II to be incorporated into the holoprotein. Here we have identified mutations
      in the human homologue, SCO2, in three unrelated infants with a newly recognized 
      fatal cardioencephalomyopathy and COX deficiency. Immunohistochemical studies
      implied that the enzymatic deficiency, which was most severe in cardiac and
      skeletal muscle, was due to the loss of mtDNA-encoded COX subunits. The clinical 
      phenotype caused by mutations in human SCO2 differs from that caused by mutations
      in SURF1, the only other known COX assembly gene associated with a human disease,
      Leigh syndrome.
FAU - Papadopoulou, L C
AU  - Papadopoulou LC
AD  - Department of Pharmaceutical Sciences, Aristotle University of Thessaloniki,
      Thessaloniki, Macedonia, Greece.
FAU - Sue, C M
AU  - Sue CM
FAU - Davidson, M M
AU  - Davidson MM
FAU - Tanji, K
AU  - Tanji K
FAU - Nishino, I
AU  - Nishino I
FAU - Sadlock, J E
AU  - Sadlock JE
FAU - Krishna, S
AU  - Krishna S
FAU - Walker, W
AU  - Walker W
FAU - Selby, J
AU  - Selby J
FAU - Glerum, D M
AU  - Glerum DM
FAU - Coster, R V
AU  - Coster RV
FAU - Lyon, G
AU  - Lyon G
FAU - Scalais, E
AU  - Scalais E
FAU - Lebel, R
AU  - Lebel R
FAU - Kaplan, P
AU  - Kaplan P
FAU - Shanske, S
AU  - Shanske S
FAU - De Vivo, D C
AU  - De Vivo DC
FAU - Bonilla, E
AU  - Bonilla E
FAU - Hirano, M
AU  - Hirano M
FAU - DiMauro, S
AU  - DiMauro S
FAU - Schon, E A
AU  - Schon EA
LA  - eng
SI  - GENBANK/AB010722
SI  - GENBANK/AB010723
SI  - GENBANK/AE000717
SI  - GENBANK/AF026852
SI  - GENBANK/AF030694
SI  - GENBANK/AF177385
SI  - GENBANK/AJ235272
SI  - GENBANK/AL022117
SI  - GENBANK/L77246
SI  - GENBANK/U31081
SI  - GENBANK/U58761
SI  - GENBANK/Z26044
SI  - GENBANK/Z35893
GR  - NS11766/NS/NINDS NIH HHS/United States
GR  - NS28828/NS/NINDS NIH HHS/United States
GR  - NS32527/NS/NINDS NIH HHS/United States
GR  - etc.
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (Carrier Proteins)
RN  - 0 (Isoenzymes)
RN  - 0 (Mitochondrial Proteins)
RN  - 0 (Proteins)
RN  - 0 (RNA, Messenger)
RN  - 0 (SCO2 protein, S cerevisiae)
RN  - 0 (SCO2 protein, human)
RN  - 0 (Saccharomyces cerevisiae Proteins)
RN  - EC 1.9.3.1 (Electron Transport Complex IV)
RN  - K848JZ4886 (Cysteine)
SB  - IM
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Cardiomyopathies/enzymology/*genetics/pathology
MH  - Carrier Proteins
MH  - Cloning, Molecular
MH  - Conserved Sequence/genetics
MH  - Cysteine/genetics/metabolism
MH  - *Cytochrome-c Oxidase Deficiency
MH  - DNA Mutational Analysis
MH  - Electron Transport Complex IV/metabolism
MH  - Fatal Outcome
MH  - Female
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Isoenzymes/chemistry/genetics/metabolism
MH  - Male
MH  - Mitochondrial Proteins
MH  - Molecular Sequence Data
MH  - Mutation
MH  - Myocardium/enzymology/metabolism/*pathology
MH  - Neuromuscular Diseases/enzymology/*genetics/pathology
MH  - Polymorphism, Restriction Fragment Length
MH  - Proteins/chemistry/*genetics/metabolism
MH  - RNA, Messenger/analysis/genetics
MH  - Saccharomyces cerevisiae Proteins
EDAT- 1999/11/05 08:00
MHDA- 2001/03/23 10:01
CRDT- 1999/11/05 08:00
PHST- 1999/11/05 08:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/11/05 08:00 [entrez]
AID - 10.1038/15513 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Nov;23(3):333-7. doi: 10.1038/15513.