Mitochondrial myopathy (MM) has been applied to muscle disease in which mitochondria have abnormal structure, function or both. To characterize the pathologic findings of MM, we examined the ultrastructural and histochemical findings of 24 cases of MM. The ultrastructures of the MM were characterized by abnormal mitochondria in number (pleoconia) and size (megaconia), and showed predominant accumulation of mitochondria in the subsarcolemmal space of myofibers in all cases. Mitochondria contained abnormally shaped cristae (concentric form and gyriform) in 79% of cases. Paracrystalline inclusion which was known to be a characteristics of MM were seen only in 7 cases (29%). Electron dense deposits were more frequently found (77%) in abnormal mitochondria of chronic progressive external opthalmoplegia and Kearn-Sayre syndrome. But, other findings were not specific for the specific clinical entities. On succinate dehydrogenase (SDH) stain, ragged red fibers (RRF) showed more intense positivity than modified Gomori-trichrome stain and definite strong reactive products were present along the periphery of myofibers which showed normal findings on modified Gomori-trichrome stain. In conclusion, ultrastructural findings such as mitochondria showing pleoconia with megaconia, and bizarre shaped cristae may be helpful for the diagnosis of MM and SDH stain is more useful for identification of RRF than modified Gomori-trichrome stains.
Coloring Agents ; Diagnosis ; Mitochondria ; Mitochondrial Myopathies* ; Succinate Dehydrogenase

PURPOSE: This study was performed to analyse urine gamma-hydroxybutyric acid(GHB) in children with seizures, and to investigate the pattern of seizures and neurologic abnormalities in children related with gamma-hydroxybutyric aciduria. METHODS: We reviewed retrospectively medical records of children who admitted to our hospital with seizures between August 1. 2001 and February 28. 2003. We compared urine GHB levels with controls, and also analyzed the clinical features of patients who showed increased urine GHB. RESULTS: The mean urine GHB was 1.7+/-1.6 mmol/mol cr in febrile seizures, 1.8+/-2.5 mmol/mol cr in non-febrile seizures, and 1.8+/-2.0 mmol/mol cr in controls. Compared with control group, there was no significant difference in urine GHB levels(P>0.05). In 8 of 64 children with seizures, GHB levels increased above 2 standard deviation of normal controls. The types of seizure in children who showed increased urine GHB were generalized tonic clonic seizure in 3 patients, complex partial seizure in 2 patients, febrile seizure in 2 patients, and benign Rolandic epilepsy in 1 patient. 3 patients showed neurologic abnormalities, 4 patients showed electroencephalographic abnormalities, and 2 patients of 6 patients who performed brain imaging study showed brain imaging abnormalities. CONCLUSION: Children with gamma-hydroxybutyric aciduria should be suspected succinic semialdehyde dehydrogenase deficiency as a cause of underlying disease.
Child* ; Epilepsy* ; Epilepsy, Rolandic ; Humans ; Medical Records ; Neuroimaging ; Retrospective Studies ; Seizures* ; Seizures, Febrile ; Succinate-Semialdehyde Dehydrogenase

To investigate recovery, growth, and activity of hepatocyte in primary culture after cell separation, the authors followed up the marker enzyme activities of golgi complex, mitochondria and biologic membrane. Thiamine pyrophosphatase, the marker enzyme of golgi complex, activity approached the level of long term culture at 4th day. Succinate dehydrogenase, the marker enzyme of mitochondria, activity decreased with time, then it maintained constant level after 4th day. Alkaline phosphatase, the marker enzyme of biological membrane, activity increased from 3rd day, and after 5th day it showed strong reaction. These data suggested that hepatocytes were stabilized and recovered normal activity 4 day after cell separation. But the main secretory function was speculated to be reduced in culture.
Alkaline Phosphatase ; Animals ; Cell Separation ; Golgi Apparatus ; Hepatocytes* ; Membranes ; Mitochondria ; Organelles* ; Rats* ; Succinate Dehydrogenase ; Thiamine Pyrophosphatase

The management of gastrointestinal stromal tumors (GISTs) has evolved significantly in the last two decades due to better understanding of their biologic behavior as well as development of molecular targeted therapies. GISTs with exon 11 mutation respond to imatinib whereas GISTs with exon 9 or succinate dehydrogenase subunit mutations do not. Risk stratification models have enabled stratifying GISTs according to risk of recurrence and choosing patients who may benefit from adjuvant therapy. Assessing response to targeted therapies in GIST using conventional response criteria has several potential pitfalls leading to search for alternate response criteria based on changes in tumor attenuation, volume, metabolic and functional parameters. Surveillance of patients with GIST in the adjuvant setting is important for timely detection of recurrences.
Exons ; Gastrointestinal Stromal Tumors* ; Humans ; Imatinib Mesylate ; Molecular Targeted Therapy ; Recurrence ; Succinate Dehydrogenase

Biomarkers, Tumor ; genetics ; Gastrointestinal Stromal Tumors ; diagnosis ; genetics ; Humans ; Succinate Dehydrogenase ; deficiency ; genetics

Electron Transport Complex IV ; analysis ; Humans ; Mitochondrial Myopathies ; enzymology ; Staining and Labeling ; Succinate Dehydrogenase ; analysis

succinate dehydrogenase, during the toxic effect on L929 fibroblasts according to the effect on activity of succinate dehydrogenase. during the secondary sterilization of the demineralized allogeneic bone powder with irradiation or ethylene oxide gas. The results were as follows ; 1. Around the copper disk, positive control group, 10mm diameter discoloration was observed. 2. As same as the negative control group, the silicine disk showed no discoloration. 3. The demineralized allogeneic bone which was sterilized with ethylene oxide gas or irradiation showed no cytotoxicity. 4. From this results, it is suggested that treatment with ethylene oxide gas or irradiation should be effective to sterilize the demineralized allogeneic bone.]]>
Anti-Bacterial Agents ; Copper ; Disinfection ; Ethylene Oxide ; Fibroblasts ; Freezing ; Micropore Filters ; Sterilization ; Succinate Dehydrogenase ; Transplants

OBJECTIVE: To explore the genetic basis for a child with succinate semialdehyde dehydrogenase deficiency. METHODS: Peripheral blood samples of the proband and his parents were collected and subjected to Sanger sequencing. High-throughput sequencing was used to verify the gene variants. Bioinformatic software was used to analyze the pathogenicity of the variant sites. RESULTS: Sanger sequencing showed that the proband carried a homozygous c.1529C>T (p.S510F) variant of the ALDH5A1 gene, for which his mother was a carrier. The same variant was not detected in his father. However, high-throughput sequencing revealed that the child and his father both had a deletion of ALDH5A1 gene fragment (chr6: 24 403 265-24 566 986). CONCLUSION The c.1529C>T variant of the ALDH5A1 gene and deletion of ALDH5A1 gene fragment probably underlay the disease in the child. High-throughput sequencing can detect site variation as well as deletion of gene fragment, which has enabled genetic diagnosis and counseling for the family.
Amino Acid Metabolism, Inborn Errors/genetics* ; Child ; Developmental Disabilities ; Humans ; Infant ; Mutation ; Succinate-Semialdehyde Dehydrogenase/genetics*

5-aminolevulinic acid (ALA), a precursor for biosynthesis of pyrrole compounds in living organisms, has been widely used in agriculture and medical photodynamics therapy and is regarded as a promising value-added bio-based chemical. In the previous investigations on ALA production with recombinant Escherichia coli expressing heterogenous C4 pathway gene, LB media supplemented with glucose and ALA precursors succinate and glycine is widely used, leading to high production cost. Succinate participates in ALA biosynthesis in a form of succinyl-CoA. In this study, genes involved in succinyl-CoA consumption, sdhAB (encoding succinic dehydrogenase) or sucCD (encoding succinyl-CoA synthetase) of E. coli MG1655 was knocked out and tested for ALA accumulation. In comparison with the recombinant E. coli strain expressing heterogenous ALA synthetase, the sdhAB- or sucCD-deficient strain accumulate 25.59% and 12.40%, respectively, more ALA in a 5 L fermentor using a defined synthetic medium with glucose as main carbon source and without supplementation of succinate, providing a novel cost-effective approach for industrial production of ALA.
Aminolevulinic Acid ; metabolism ; Escherichia coli ; enzymology ; genetics ; metabolism ; Industrial Microbiology ; methods ; Metabolic Engineering ; methods ; Recombinant Proteins ; genetics ; metabolism ; Succinate Dehydrogenase ; genetics ; metabolism ; Succinate-CoA Ligases ; genetics ; metabolism

OBJECTIVETo explore the pathophysiological and biomechanical features of skeletal muscular injury for providing a rational basis for its treatment, prevention and rehabilitation.

METHODSIn 70 adult rabbits, the left tibialis anterior (TA) muscle was stretched to injury, while the right TA muscle served as control. Histological, enzymohistochemical and biomechanical changes were observed on days 0, 1, 2, 3, and 7 after injury. Cytochrome oxidase (CCO), acid phosphatase (ACP), ATPase, succinate dehydrogenase (SDH), malate dehydrogenase (MDH), NADH-diaphorase (NADHD), glutamatedehydrogenase (GDH), alpha-glycerophosphate dehydrogenase (alpha-GPD) and lactate dehydrogenase (LDH) were measured. The examined biomechanical parameters included maximal contractile force, ultimate load, length, energy absorption, tangent stiffness, and rupture site.

RESULTSPartial or complete rupture of TA muscle occurred near the muscle-tendon junction. There was an intense inflammatory reaction on day 1 and 2 after injury. Endomysium fibrosis and myotube formation were observed on day 3, and developed further on day 7. The activity of cell oxidases (CCO, ATPase, MDH, alpha-GPD, SDH, NADHD and GDH) showed a significant drop from day 0 to 2, and resumed with different levels on day 3. The increment of enzymatic activities continued on day 7 and the levels of NADHD and alpha-GPD reached to the levels of control muscle. Maximal contractile force was 70.17%+/-3.82% of controls immediately after injury, 54.82%+/-3.09% at 1 day, 66.41%+/-4.36% at 2 days, 78.39%+/-4.90% at 3 days and 93.64%+/-5.02% at 7 days. Ultimate load was 85.78%+/-7.54% of controls at the moment of injury, 61.44%+/-5.91% at 1 day, 49.17%+/-4.26% at 2 days, 64.43%+/-5.02% at 3 days, and 76.71%+/-6.46% at 7 days.

CONCLUSIONSEndomysium fibrosis and scar formation at the injured site are responsible for frequent recurrence of skeletal muscle injury. Recovery of tensile load slower than that of maximal contractile force may be another cause. Whether the injured muscle returns to normal exercise is mainly determined by the tensility on which the muscle-tendon can bear rather than the maximal contractile force.

Acid Phosphatase ; analysis ; Adenosine Triphosphatases ; analysis ; Animals ; Biomechanical Phenomena ; Dihydrolipoamide Dehydrogenase ; analysis ; Electron Transport Complex IV ; analysis ; Glutamate Dehydrogenase ; analysis ; Glycerolphosphate Dehydrogenase ; analysis ; L-Lactate Dehydrogenase ; analysis ; Malate Dehydrogenase ; analysis ; Muscle, Skeletal ; injuries ; pathology ; physiology ; Rabbits ; Succinate Dehydrogenase ; analysis