Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report.
OBJECTIVE
To report on a case with a mitochondrial DNA (mtDNA) depletion syndrome.


METHODS
Laboratory studies were done in muscle biopsy and fibroblasts to evaluate coenzyme Q(10) (CoQ(10)) status and quantify mitochondrial DNA.


RESULTS
Decreased CoQ(10) values and a 78% of mtDNA depletion were detected in muscle. Mutational studies failed to reveal any pathogenic mutation in nuclear genes related with mtDNA maintenance.


CONCLUSIONS
mtDNA depletion syndrome was associated with CoQ(10) deficiency in our patient.
Montero
Raquel
R
Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Spain.
Sánchez-Alcázar
Jose A
JA
Briones
Paz
P
Navarro-Sastre
Aleix
A
Gallardo
Ester
E
Bornstein
Belén
B
Herrero-Martín
Dolores
D
Rivera
Henry
H
Martin
Miguel A
MA
Marti
Ramón
R
García-Cazorla
Angels
A
Montoya
Julio
J
Navas
Plácido
P
Artuch
Rafael
R
D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008931:Mitochondria, Muscle / Q000235:genetics; D028361:Mitochondrial Diseases / Q000209:etiology* / Q000235:genetics* / Q000378:metabolism; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000172:deficiency
D004272:DNA, Mitochondrial; D014451:Ubiquinone; C024989:coenzyme Q10