Mitochondrial DNA Mutation Detection by Electrospray Mass Spectrometry | Zendy

Yun Jiang | Zendy; Thomas A. Hall | Zendy; Steven A. Hofstadler | Zendy; Robert K. Naviaux | Zendy

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Mitochondrial DNA Mutation Detection by Electrospray Mass Spectrometry

Author(s) -

Yun Jiang,

Thomas A. Hall,

Steven A. Hofstadler,

Robert K. Naviaux

Publication year - 2006

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2006.074823

Subject(s) - fourier transform ion cyclotron resonance , mitochondrial dna , single nucleotide polymorphism , microbiology and biotechnology , restriction fragment length polymorphism , electrospray ionization , biology , mass spectrometry , polymerase chain reaction , snp , genetics , chemistry , chromatography , gene , genotype

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.

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