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OXPHOSOxidative Phosphorylation (metabolic pathway)
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Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups.
Through a microarray differential expression analysis, including all sequences mapping inside STR1, we discovered the gene encoding the mitochondrial protein Ndufc2 (a subunit of the OXPHOS complex I, encoded by nuclear DNA) as a sequence significantly downregulated by high salt diet only in the brain of SHRSP as compared to the SHRSR [13].
For establishing the reference interval, 115 reference samples with no biochemical evidence for an OXPHOS defect were included.
At the early stage of an OXPHOS disorder, the only morphologic change that might be noted in a muscle biopsy is accumulation of mitochondria in the subsarcolemmal region.
There are many proteins involved in the OXPHOS system that are encoded by the nuclear genome.
sup][6],[7] Mitochondrial OXPHOS defects resulting in the reduction of adenosine triphosphate (ATP) generation and longstanding increase of ROS production may be responsible for the pathogenesis of hypertension, cardiac contractile dysfunction and, subsequently, heart failure and death.
State 3 respiration was then induced by adding ADP (1mM) for measuring OXPHOS I followed by 10 mM succinate to assess OXPHOS I+II.
Large functional range of steady-Mate levels of nuclear and mitochondrial transcripts coding for the subunits of the human mitochondrial OXPHOS system.
Enzyme analysis of individual OXPHOS complexes in skeletal muscle biopsy remains the mainstay of the diagnostic process for patients suspected of mitochondrial cytopathy (2).
54) The remaining mitochondrial OXPHOS proteins, the metabolic enzymes, the DNA and RNA polymerases, the ribosomal proteins and the mtDNA regulating factors are all encoded by nuclear genes.
Spastic paraplegia and OXPHOS impairment caused by mutations in paralegin, a nuclear-encoded mitochondrial metalloprotease.