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Property "Has-20abstract" (as page type) with input value "-5B-5BImage:MITOEAGLE-2Dlogo.jpg-7Cleft-7C100px-7Clink=http:-2F-2Fwww.mitoglobal.org-2Findex.php-2FMITOEAGLE-7CCOST-20Action-20MITOEAGLE-5D-5D-20Mutations-20in-20the-20mitochondrial-20DNA-20(mtDNA)-20lead-20to-20many-20human-20mitochondrial-20disorders-20with-20impaired-20bioenergetics.-20The-20clinical-20severity-20of-20the-20disease-20may-20also-20depend-20on-20the-20load-20of-20mutant-20mtDNA-20and-20bioenergetic-20dysfunction.-20The-20development-20of-20FDA-20–approved-20therapies-20for-20primary-20mitochondrial-20disorders-20have-20been-20hindered-20by-20genetic-20and-20clinical-20heterogeneity,-20limited-20knowledge-20of-20natural-20history-20of-20disease-20progression,-20and-20lack-20of-20clear-20clinical-20endpoints.-20Our-20long-2Dterm-20goal-20is-20the-20development-20of-20patient-2D-20and-20disease-2Dspecific-20cell-20based-20models-20that-20will-20provide-20us-20novel-20insights-20into-20disease-20origins-20and-20severity.-20-0A-0AIn-20this-20study,-20we-20have-20focused-20our-20efforts-20on-20Leigh’s-20syndrome-20(LS),-20as-20there-20is-20no-20current-20cure-20for-20LS-20nor-20an-20adequate-20model-20for-20understanding-20the-20rapid-20fatality-20associated-20with-20the-20disease.-20We-20characterized-20the-20mutation-20and-20mitochondrial-20function-20of-20two-20patient-2Dderived-20fibroblasts-20from-20LS-20carrying-20T8993G-20point-20mutation-20encoding-20subunit-20of-20ATP-20synthase-20(Complex-20V)-3B-20and-20T10185C-20point-20mutation-20encoding-20subunit-20of-20NADH-20dehydrogenase-20(Complex-20I).-20Using-20Sanger-20sequencing-20approaches,-20we-20confirmed-20the-20presence-20of-20the-20mutation-20in-20the-20patient-20fibroblasts.-20Immunocytochemical-20analysis-20based-20on-20use-20of-20MitoTracker-20Red-20CM-2DH2Xros-20and-20MitoTracker™-20Green-20FM-20demonstrated-20that-20T8993G-20and-20T10185C-20cells-20have-20a-20low-20number-20of-20active-20mitochondria-20compared-20to-20healthy-20fibroblasts.-20Our-20preliminary-20observations-20indicate-20that-20the-20basal-20respiration-20and-20ATP-20production-20in-20the-20diseased-20cell-20lines-20were-20significantly-20lower-20than-20healthy-20fibroblast-20cells,-20while-20the-20proton-20leak-20and-20non-2Dmitochondrial-20oxygen-20consumption-20of-20T8993G-20cells-20was-20higher-20compared-20to-20T10185C-20and-20healthy-20cells.-20Our-20findings-20demonstrate-20that-20both-20the-20patient-20fibroblasts-20have-20mitochondrial-20dysfunction-20that-20correlate-20with-20the-20pathogenic-20mtDNA-20burden.-20We-20are-20currently-20monitoring-20these-20parameters-20in-20the-20reprogrammed-20and-20differentiated-20cells-20carrying-20the-20mutation." contains invalid characters or is incomplete and therefore can cause unexpected results during a query or annotation process.

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