Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:4.1.2.13 (aldolase)
 3,461 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of mitochondrial encephalomyopathy with a partial cytochrome c oxidase deficiency was reported with special reference to electrophysiological studies. A 56-year-old man was readmitted to Himeji Central Hospital due to mental deterioration and character change. At the age of 44 when he was attacked by his first epileptic seizure, he was admitted to Himeji Central Hospital, where EEG abnormalities and cerebral atrophy were found. Anticonvulsants helped to relieve his generalized convulsions but the EEG abnormalities persisted. At age 46, he had the second generalized seizure, so he quit his job as a crane operator. His family began to notice deterioration of his intellectual function and hyperaggressive behavior. His daily activities, intellectual performance and mental condition gradually deteriorated (WAIS FIQ less than 60). Other clinical and laboratory findings are as follows: bilateral impaired hearing, no optic nerve atrophy, no disturbance of extra ocular muscle movements, mild wasting and weakness of his extremities, normal coordination and sensation, no myoclonus or other involuntary movements, normal laboratory data of serum creatinine kinase, lactate dehydrogenase and aldolase, and increased amount of lactate and pyruvate in serum and cerebrospinal fluid (CSF), no abnormal amino acids in urine. A biopsy specimen of right biceps brachii muscle revealed numerous ragged-red fibers in frozen sections stained by the Gomori trichrome method. These fibers did not react to a cytochrome c oxidase staining. An ATPase staining demonstrated an atrophy of type-2 fibers. An electron micrograph showed many mitochondria in the sarcoplasm but few paracrystalline inclusions. A biochemical analysis of the muscle biopsy also revealed a significant decrease in the cytochrome c oxidase activity.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A mitochondrial encephalomyopathy due to partial cytochrome c oxidase deficiency with giant evoked potentials--a case report]. 217 89

A 73-year-old woman with progressive proximal-dominant muscular atrophy and weakness was described. She had been well until 70-year-old, when she found difficulty in standing up from sitting position. At age 72 years, she could not raise her arms. Neurological examination showed muscular wasting and weakness in the proximal parts of extremities, shoulder and pelvic girdle. In the thigh, the flexors and adductors were severely affected. Muscular weakness was also observed in m. tibialis anterior. Serum CK and aldolase were normal. Electromyography showed low voltage short duration motor unit potentials with positive sharp waves and fibrillations. Rimmed vacuoles were observed in 4.8% of muscle fibers in biopsy sample obtained from right m. quadriceps femoris. No inflammatory cells, PAS-positive materials and inclusion bodies were observed in the sample. This case differs from distal myopathy with rimmed vacuoles, because the onset was very late and her muscular weakness and atrophy was proximal dominant. This case also differs from inclusion body myositis, because muscle biopsy revealed no inflammatory cells or inclusion body.
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PMID:[A case of senile onset rimmed vacuole myopathy with proximally dominant involvement]. 227 64

A 34-year-old woman noted difficulty of gait initiation, then dilated finger opening and hyperhidrosis appeared. Her stature was a muscular habitus, and muscle stiffness and myokymia were found in all muscles of the extremities. Her stiffness persisted during sleep. Her calf muscles were large and a contracture was noticed in ankle joints. There was no evidence of wasting and weakness. A remarkable delay in voluntary relaxation of the contracted muscles without percussion myotonia was recognized. Tendon reflexes of lower extremities were absent. Laboratory examination revealed elevation of CPK, LDH, myoglobulin, aldolase and basal metabolic rate (BMR). An extraband of CPK isoenzyme between MB and MM fraction was observed. The thin layer gel filtration technique and immunofixation technique showed that this extraband was complexes of CPK and IgA, and light chain of the CPK linked IgA was lambda type. All other laboratory tests were normal for the following: urinalysis, ESR, a blood count, liver function, kidney function, glucose, rheumatoid factor, CRP, thyroid function, parathyroid function, serum electrolytes, ECG, EEG, cranial CT, without slight elevation of IgA, and CSF protein. In needle EMG and surface EMG spontaneous discharges were recorded at rest. These discharges consist of normal motor unit potentials, doublets, and triplets in needle EMG. The discharges were markedly reduced after the median nerve block with xylocaine. In needle EMG, myotonic discharge was not observed. Nerve conduction velocities were within normal ranges. According to these data, she was diagnosed as having Issacs' syndrome (continuous muscle fiber activity syndrome). Carbamazepine, 200 mg daily was administrated and showed a dramatic reversal of the symptoms.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of Isaac's syndrome--continuous muscle fiber activity syndrome]. 373 Jan 94

We describe two siblings with distal myopathy with rimmed vacuoles, who died suddenly presumably due to fatal arrhythmia. Case 1. A 26-year-old man with a 4 year-history of progressive muscle weakness and wasting was hospitalized in April, 1989. The family history showed that his younger brother had the same disease, but his parents, not consanguineous, and other family members had no neuromuscular diseases. On admission, neurologic examination showed muscle weakness and atrophy in the distal portions of four extremities. No myotonia or fasciculation was present. The deep tendon reflexes were absent except diminished bilateral PTR. Sensation and co-ordination were normal. The creatinine kinase (CK) level was moderately elevated to 691 IU/l, and the aldolase mildly to 6.9 IU/l. Normal laboratory values included serum electrolytes, glucose and thyroid function study. An ischemic forearm exercise test revealed a normal rise in serum lactate and pyruvate concentrations. The glucose response after glucagon was normal in the fasting state. An electrocardiogram and chest film were normal. An electromyogram revealed myopathic changes with mild neuropathic changes, including positive sharp waves and fibrillation potentials at rest. The muscle biopsy specimen from the left anterior tibial muscle showed scattered fibers with rimmed vacuoles and moderate variation in fiber size. Neither fiber necrosis nor inflammatory cellular infiltration was seen. Regenerating fiber was not present. An electron microscopic examination showed numerous lamellar bodies of various size. Nerve biopsy was normal. He was diagnosed as having distal myopathy with rimmed vacuoles. Muscle weakness progressed gradually over the next two years, but his general condition was good. He asked to receive the corticosteroid therapy, and rehospitalized.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Distal myopathy with rimmed vacuoles and sudden death--report of two siblings]. 826 2

Contractile weakness and loss of muscle mass are critical features of the aging process in mammalians. Age-related fibre wasting has a profound effect on muscle metabolism, fibre type distribution and the overall physiological integrity of the neuromuscular system. This study has used mass spectrometry-based proteomics to investigate the fate of the aging rat muscle proteome. Using nonionic detergent phase extraction, this report shows that the aged gastrocnemius muscle exhibits a generally perturbed protein expression pattern in both the detergent-extracted fraction and the aqueous protein complement from senescent muscle tissue. In the detergent-extracted fraction, the expression of ATP synthase, isocitrate dehydrogenase, enolase, tropomyosin and beta-actin was increased. Different isoforms of creatine kinase and prohibitin showed differential changes. In the aqueous fraction, malate dehydrogenase, sulfotransferase, triosephosphate isomerase, aldolase, cofilin-2 and lactate dehydrogenase showed increased levels. Interestingly, differential effects on dissimilar 2-D spots of the same protein species were shown for Cu/Zn superoxide dismutase, albumin, annexin A4 and phosphoglycolate phosphatase. Mitochondrial Hsp60, Hsp71 and nucleoside diphosphate kinase B exhibited a reduced abundance in aged muscle. The majority of altered proteins were found to be involved in mitochondrial metabolism, glycolysis, metabolic transportation, regulatory processes, the cellular stress response, detoxification mechanisms and muscle contraction.
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PMID:DIGE analysis of rat skeletal muscle proteins using nonionic detergent phase extraction of young adult versus aged gastrocnemius tissue. 2015 46

Biomarkers of muscle protein synthesis rate could provide early data demonstrating anabolic efficacy for treating muscle-wasting conditions. Androgenic therapies have been shown to increase muscle mass primarily by increasing the rate of muscle protein synthesis. We hypothesized that the synthesis rate of large numbers of individual muscle proteins could serve as early response biomarkers and potentially treatment-specific signaling for predicting the effect of anabolic treatments on muscle mass. Utilizing selective androgen receptor modulator (SARM) treatment in the ovariectomized (OVX) rat, we applied an unbiased, dynamic proteomics approach to measure the fractional synthesis rates (FSR) of 167-201 individual skeletal muscle proteins in triceps, EDL, and soleus. OVX rats treated with a SARM molecule (GSK212A at 0.1, 0.3, or 1 mg/kg) for 10 or 28 days showed significant, dose-related increases in body weight, lean body mass, and individual triceps but not EDL or soleus weights. Thirty-four out of the 94 proteins measured from the triceps of all rats exhibited a significant, dose-related increase in FSR after 10 days of SARM treatment. For several cytoplasmic proteins, including carbonic anhydrase 3, creatine kinase M-type (CK-M), pyruvate kinase, and aldolase-A, a change in 10-day FSR was strongly correlated (r(2) = 0.90-0.99) to the 28-day change in lean body mass and triceps weight gains, suggesting a noninvasive measurement of SARM effects. In summary, FSR of multiple muscle proteins measured by dynamics of moderate- to high-abundance proteins provides early biomarkers of the anabolic response of skeletal muscle to SARM.
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PMID:Proteome-wide muscle protein fractional synthesis rates predict muscle mass gain in response to a selective androgen receptor modulator in rats. 2671 47