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 language | English |
|---|---|
| Title of host publication | 15th International Conference on Miniaturized Systems for Chemistry and Life Sciences 2011, MicroTAS 2011 |
| Pages | 996-998 |
| Number of pages | 3 |
| Publication status | Published - 2011 Dec 1 |
| Event | 15th International Conference on Miniaturized Systems for Chemistry and Life Sciences 2011, MicroTAS 2011 - Seattle, WA, United States Duration: 2011 Oct 2 → 2011 Oct 6 |
Publication series
| Name | 15th International Conference on Miniaturized Systems for Chemistry and Life Sciences 2011, MicroTAS 2011 |
|---|---|
| Volume | 2 |
Other
| Other | 15th International Conference on Miniaturized Systems for Chemistry and Life Sciences 2011, MicroTAS 2011 |
|---|---|
| Country | United States |
| City | Seattle, WA |
| Period | 11-10-02 → 11-10-06 |
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All Science Journal Classification (ASJC) codes
- Control and Systems Engineering
Cite this
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Point-mutation detection of mitochondrial DNA by using microfluidic systems. / Chang, Chen Min; Chiou, Li Fang; Shieh, Dar Bin; Lee, Gwo Bin.
15th International Conference on Miniaturized Systems for Chemistry and Life Sciences 2011, MicroTAS 2011. 2011. p. 996-998 (15th International Conference on Miniaturized Systems for Chemistry and Life Sciences 2011, MicroTAS 2011; Vol. 2).Research output: Chapter in Book/Report/Conference proceeding › Conference contribution
TY - GEN
T1 - Point-mutation detection of mitochondrial DNA by using microfluidic systems
AU - Chang, Chen Min
AU - Chiou, Li Fang
AU - Shieh, Dar Bin
AU - Lee, Gwo Bin
PY - 2011/12/1
Y1 - 2011/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84883783989&partnerID=8YFLogxK
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M3 - Conference contribution
AN - SCOPUS:84883783989
SN - 9781618395955
T3 - 15th International Conference on Miniaturized Systems for Chemistry and Life Sciences 2011, MicroTAS 2011
SP - 996
EP - 998
BT - 15th International Conference on Miniaturized Systems for Chemistry and Life Sciences 2011, MicroTAS 2011
ER -