Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F14%3A10290693" target="_blank" >RIV/00064165:_____/14:10290693 - isvavai.cz</a>
Alternative codes found
RIV/67985823:_____/14:00437817 RIV/00216208:11110/14:10290693 RIV/00064190:_____/14:#0000851
Result on the web
<a href="http://dx.doi.org/10.1016/j.bbacli.2014.09.003" target="_blank" >http://dx.doi.org/10.1016/j.bbacli.2014.09.003</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.bbacli.2014.09.003" target="_blank" >10.1016/j.bbacli.2014.09.003</a>

Result language
angličtina
Original language name
Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry
Original language description
Background: Mitochondrial diseases belong to the most severe inherited metabolic disorders affecting pediatric population. Despite detailed knowledge of mtDNA mutations and progress in identification of affected nuclear genes, diagnostics of a substantial part of mitochondrial diseases relies on clinical symptoms and biochemical data from muscle biopsies and cultured fibroblasts. Methods: To investigate manifestation of oxidative phosphorylation defects in isolated lymphocytes, digitoninpermeabilized cells from 48 children were analyzed by high resolution respirometry, cytofluorometric detection of mitochondrial membrane potential and immunodetection of respiratory chain proteins with SDS and Blue Native electrophoreses. Results: Evaluation of individual respiratory complex activities, ATP synthesis, kinetic parameters of mitochondrial respiratory chain and the content and subunit composition of respiratory chain complexes enabled detection of inborn defects of respiratory complexes I,
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FG - Paediatrics
OECD FORD branch
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Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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