Point-mutation detection of mitochondrial DNA by using microfluidic systems

Chen Min Chang, Li Fang Chiou, Dar Bin Shieh, Gwo Bin Lee

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Abstract

Mitochondrial disorders are a group of complex and heterogeneous diseases that may be caused by molecular defects in mitochondrial genomes. Pathogenic mitochondrial DNA (mtDNA) mutations are usually present in the heteroplasmic form. The degree of mtDNA mutation heteroplasmy varies among different tissues. Thus, it is important to detect and quantify the degree of mutation heteroplasmy of mtDNA. Currently, more than 100 pathogenic mtDNA point-mutations have been documented and new ones are still being extensively explored. Among them, A3243G mutation, which causes the myopathy encephalopathy lactic acidosis and stroke (MELAS) syndrome and diabetes, attracts considerable interest recently. In this study, a new microfluidic system capable of point-mutation detection of mtDNA has been demonstrated. The entire process including cell lysis, enzyme digestion, amplification of target fragment of mtDNA and optical detection can be automatically performed. Experimental results showed that the point-mutation of mtDNA can be successfully detected.

Original languageEnglish
Title of host publication15th International Conference on Miniaturized Systems for Chemistry and Life Sciences 2011, MicroTAS 2011
Pages996-998
Number of pages3
Publication statusPublished - 2011 Dec 1
Event15th International Conference on Miniaturized Systems for Chemistry and Life Sciences 2011, MicroTAS 2011 - Seattle, WA, United States
Duration: 2011 Oct 22011 Oct 6

Publication series

Name15th International Conference on Miniaturized Systems for Chemistry and Life Sciences 2011, MicroTAS 2011
Volume2

Other

Other15th International Conference on Miniaturized Systems for Chemistry and Life Sciences 2011, MicroTAS 2011
CountryUnited States
CitySeattle, WA
Period11-10-0211-10-06

    Fingerprint

All Science Journal Classification (ASJC) codes

  • Control and Systems Engineering

Cite this

Chang, C. M., Chiou, L. F., Shieh, D. B., & Lee, G. B. (2011). Point-mutation detection of mitochondrial DNA by using microfluidic systems. In 15th International Conference on Miniaturized Systems for Chemistry and Life Sciences 2011, MicroTAS 2011 (pp. 996-998). (15th International Conference on Miniaturized Systems for Chemistry and Life Sciences 2011, MicroTAS 2011; Vol. 2).