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 fe...

Full description

Saved in:
Bibliographic Details
Published in:Mitochondrion 2008-03, Vol.8 (2), p.136-145
Main Authors: Bannwarth, S, Procaccio, V, Rouzier, C, Fragaki, K, Poole, J, Chabrol, B, Desnuelle, C, Pouget, J, Azulay, J P, Attarian, S, Pellissier, J F, Gargus, J J, Abdenur, J E, Mozaffar, T, Calvas, P, Labauge, P, Pages, M, Wallace, D C, Lambert, J C, Paquis-Flucklinger, V
Format: Article
Language:English
Subjects:
Adolescent
Adult
Child, Preschool
DNA, Mitochondrial - genetics
Endonucleases
Female
Genetic Testing - methods
Humans
Infant
Male
Middle Aged
Mitochondrial Diseases - genetics
Neuromuscular Diseases - genetics
Pedigree
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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).
ISSN:1567-7249
DOI:10.1016/j.mito.2007.10.008