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

Journal Article


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 samples is not as sensitive, particularly in older subjects. The absence of the mutation in blood samples suggests that there is a preferential selection process for normal (wild type) mtDNA over time. This may be related to the rate of cell division and energy requirements of each tissue.

UOW Authors


Publication Date


  • 1998

Citation


  • Sue, C. M., Quigley, A., Katsabanis, S., Kapsa, R., Crimmins, D. S., Byrne, E., & Morris, J. G. L. (1998). Detection of MELAS A3243G point mutation in muscle, blood and hair follicles. Journal of the Neurological Sciences, 161(1), 36-39. doi:10.1016/S0022-510X(98)00179-8

Scopus Eid


  • 2-s2.0-0032569876

Start Page


  • 36

End Page


  • 39

Volume


  • 161

Issue


  • 1

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 samples is not as sensitive, particularly in older subjects. The absence of the mutation in blood samples suggests that there is a preferential selection process for normal (wild type) mtDNA over time. This may be related to the rate of cell division and energy requirements of each tissue.

UOW Authors


Publication Date


  • 1998

Citation


  • Sue, C. M., Quigley, A., Katsabanis, S., Kapsa, R., Crimmins, D. S., Byrne, E., & Morris, J. G. L. (1998). Detection of MELAS A3243G point mutation in muscle, blood and hair follicles. Journal of the Neurological Sciences, 161(1), 36-39. doi:10.1016/S0022-510X(98)00179-8

Scopus Eid


  • 2-s2.0-0032569876

Start Page


  • 36

End Page


  • 39

Volume


  • 161

Issue


  • 1