Mitochondrial DNA mutation detection by electrospray mass spectrometry.

ABSTRACT:

Background

Mitochondrial DNA (mtDNA) mutations cause a large spectrum of clinically important neurodegenerative, neuromuscular, cardiovascular, and endocrine disorders. We describe the novel application of electrospray ionization Fourier transform ion cyclotron resonance mass spectrometry (ESI-FTICR MS) to the rapid and accurate identification of pathogenic mtDNA variants.

Methods

In a blinded study, we used ESI-FTICR MS to analyze 24 unrelated samples of total cellular DNA containing 12 mtDNA variants and compared the results with those obtained by conventional PCR-restriction fragment length polymorphism (PCR-RFLP) analysis and gel electrophoresis.

Results

From the 24-sample blinded panel, we correctly identified 12 of the samples as bearing an mtDNA variant and fou

SUBMITTER: Jiang Y 

PROVIDER: S-EPMC7108174 | biostudies-literature | 2007 Feb

REPOSITORIES: biostudies-literature