Design and Use of a Peptide Nucleic Acid for Detection of the Heteroplasmic Low-Frequency Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Mutation in Human Mitochondrial DNA

Published

December 1, 2002

Author(s)

Diane K. Hancock, Frederick P. Schwarz, F H. Song, L J. Wong, Barbara C. Levin

Abstract

Most pathogenic human mitochondrial DNA (mtDNA) mutations are Heteroplasmic and are difficult to detect when present at very low levels in a population of normal mtDNA molecules. This paper describes a simple methodology to detect low levels of the single base pair Heteroplasmic MELAS (A3243G) mutation. A series of peptide nucleic acids (PNAs) was designed to bind to the wild type mtDNA, thus reducing the PCR amplification of the wild type mtDNA to background levels while permitting the mutant DNA to become the dominant product and readily discernable. This methodology will permit easy detection of the MELAS A3243G mutation is asymptomatic or symptomatic carriers with low to undetectable blood levels of this mutation.

Citation

Clinical Chemistry

Volume

48

Issue

12

Pub Type

Journals

Keywords

heteroplasmy, human, MELAS, mitochondrial DNA (mtDNA), peptide nucleic acid (PNA)

Citation

Hancock, D. , Schwarz, F. , Song, F. , Wong, L. and Levin, B. (2002), Design and Use of a Peptide Nucleic Acid for Detection of the Heteroplasmic Low-Frequency Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Mutation in Human Mitochondrial DNA, Clinical Chemistry (Accessed October 15, 2025)