TY  - JOUR
T1  - Minireview:Cell biological consequences of Leigh syndrome
AU  - Dıstelmaıer, Felix
AU  - Wıllems, Peter
AU  - Smeıtınk, Jan
AU  - Koopman, Werner
AU  - Mayatepek, Ertan
PY  - 2011
DA  - January
DO  - 10.17334/jps.01395
JF  - Journal of Pediatric Sciences
PB  - Bilal YILDIZ
WT  - DergiPark
SN  - 1309-1247
SP  - 1
EP  - 6
VL  - 3
IS  - 1
LA  - en
AB  - Mitochondria are double membrane-enveloped organelles that produce ATP in eukaryotic cells through the oxidative phosphorylation (OXPHOS) process. Accordingly, mitochondrial dysfunction is implicated in a broad range of human diseases, such as Parkinson's disease, Alzheimer's disease, cancer and diabetes. From a pediatric perspective, isolated malfunction of the first OXPHOS complex (complex I or NADH:ubiquinone oxidoreductase), is the most frequently observed defect. Complex I dysfunction may manifest itself as Leigh syndrome, which is an early-onset neurodegenerative disorder with a very poor prognosis. In addition to ATP generation, complex I dysfunction can also affect various other key cellular processes, like the generation of reactive oxygen species, maintenance of a sufficiently negative mitochondrial membrane potential, mitochondrial dynamics and calcium homeostasis. In the recent past, we performed a comprehensive live-cell analysis with skin fibroblasts from Leigh syndrome patients. These cells harbored nuclear-DNA encoded mutations in complex I subunits and displayed an isolated complex I deficiency. Here, we provide a brief overview of our key findings and directions for future research.
KW  - Mitochondria
KW  - oxidative phosphorylation
KW  - Leigh syndrome
KW  - treatment
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UR  - https://doi.org/10.17334/jps.01395
L1  - https://dergipark.org.tr/en/download/article-file/178852
ER  -