Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.3.5.1 (succinate dehydrogenase)
 8,177 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Folate nephropathy was selected as a model to study renal mitochondrial response after tubular injury. 20 h after injection, 14C-leucine incorporation was suppressed to 20--30% of control, 14C-mannose incorporation was 63--78% greater than control while the activities of succinic dehydrogenase and monoamine oxidase were unaltered. By 40 h, 14C-leucine incorporation had been restored to control values. Also, at 20 h, ATPase activity sensitive to oligomycin inhibition had increased by 45--73%, whereas K+-stimulated ATPase activity was reduced in the experimental mitochondrial fractions. The results are discussed along with other studies of mitochondria in experimental renal disease.
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PMID:Alterations of mitochondrial properties in folate nephropathy. 16 16

In a 51-year-old patient of consanguineous parents with a severe neuromuscular phenotype of early-onset ataxia, myoclonia, dysarthria, muscle weakness and exercise intolerance, exome sequencing revealed a novel homozygous variant (c.-264_31delinsCTCACAAATGCTCA) in the mitochondrial FAD-transporter gene SLC25A32. Flavin adenine dinucleotide (FAD) is an essential co-factor for many mitochondrial enzymes and impaired mitochondrial FAD-transport was supported by a reduced oxidative phosphorylation complex II activity in the patient's muscle, decreased ATP production in fibroblasts, and a deficiency of mitochondrial FAD-dependent enzymes. Clinically, the patient showed improvement upon riboflavin treatment, which is a precursor of FAD. Our results confirm the recently reported case of SLC25A32 as a cause of riboflavin-responsive disease. Our patient showed a more severe clinical phenotype compared with the reported patient, corresponding with the (most likely) complete absence of the SLC25A32-encoding MFT (Mitochondrial Folate Transporter) protein.
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PMID:Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype. 2844 23