Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.
Mutations of mitochondrial genome are responsible for respiratory chain defects in numerous patients. We have used a strategy, based on the use of a mismatch-specific DNA endonuclease named " Surveyor Nuclease", for screening the entire mtDNA in a group of 50 patients with neuromuscular features, suggesting a respiratory chain dysfunction. We identified mtDNA mutations in 20% of patients (10/50). Among the identified mutations, four are not found in any mitochondrial database and have not been reported previously. We also confirm that mtDNA polymorphisms are frequently found in a heteroplasmic state (15 different polymorphisms were identified among which five were novel).
Bannwarth
S
S
Department of Medical Genetics, Archet 2 Hospital, CHU Nice, France.
Procaccio
V
V
Rouzier
C
C
Fragaki
K
K
Poole
J
J
Chabrol
B
B
Desnuelle
C
C
Pouget
J
J
Azulay
J P
JP
Attarian
S
S
Pellissier
J F
JF
Gargus
J J
JJ
Abdenur
J E
JE
Mozaffar
T
T
Calvas
P
P
Labauge
P
P
Pages
M
M
Wallace
D C
DC
Lambert
J C
JC
Paquis-Flucklinger
V
V
D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D004720:Endonucleases; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000235:genetics; D009468:Neuromuscular Diseases / Q000235:genetics*; D010375:Pedigree
D004272:DNA, Mitochondrial; D004720:Endonucleases; C406922:CEL I nuclease