Journal article

Detection of MELAS A3243G point mutation in muscle, blood and hair follicles

CM Sue, A Quigley, S Katsabanis, R Kapsa, DS Crimmins, E Byrne, JGL Morris

JOURNAL OF THE NEUROLOGICAL SCIENCES | ELSEVIER SCIENCE BV | Published : 1998

Abstract

Polymerase chain reaction (PCR) based methods for the diagnosis and screening of the mitochondrial disorders have been well established. A number of tissues are routinely used. In this study, we compared the detection rate for MELAS A3243G point mutation in muscle, blood and hair follicles. Ten subjects were studied; mean age was 47 years, (SD 16, range 23-73). All ten subjects had the MELAS A3243G point mutation detected in muscle and hair follicles, but only five had the abnormality in blood samples. The rate of detection of the point mutation in blood samples was age dependent. MtDNA analysis on hair follicles is as sensitive as muscle in detecting this mutation. Analysis using blood samp..

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