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

The patient is 48 year-old female who has been followed as MCTD with nonsteroidal therapies for 18 years. Sometimes she has been attached by focal severe muscle pain. One year ago, she had general myalgia associated with high fever and arthralgia. The results of the examination, aldolase, GOT, GPT, gamma-GTP, CRP and leucocyte were increased. Muscle biopsy showed noncaseating epithelioid granuloma being in contact with enlarged injected vessels. Out of tough with granuloma, a few fibre necroses, fibrosis of muscle, and degeneration of collagen fiber were recognized. After treatment of nonsteroidal antiinflammatory agents, her every complain was removed. Her muscle looks normal herself. MCTD has myopathy caused by inflammatory infiltrates and fibre necroses. But granulomatous myositis is very rare. It is difficult to differentiate our case from sarcoidosis, especially acute isolated muscle sarcoidosis.
 ...
PMID:[A case of mixed connective tissue disease associated with uncommon acute myopathy caused by isolated muscle epithelioid granuloma]. 221 39

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)
 ...
PMID:[A case of Isaac's syndrome--continuous muscle fiber activity syndrome]. 373 Jan 94

In a case-controlled study, serum creatinine kinase (CK) activity was significantly lower in 40 patients with RA than in 40 age- and sex-matched patients with non-inflammatory arthropathies [mean 37.6 (S.D. 29.2) vs 77.7 (S.D. 45.3) IU/l respectively P < 0.0001]. In contrast, serum levels of aldolase and myosin were not significantly lower in RA patients. A significant inverse correlation between CK activity and ESR, CRP and platelet count was observed in RA. There was also a positive correlation between haemoglobin levels and CK values. No correlation was found between CK activity and a meager mass index, disease duration and radiological erosion. No inhibitor of CK activity in the sera of RA patients was found. CK serum activity was markedly reduced in RA, and is related to the inflammatory activity of the disease. This finding may stimulate further exploration on the effect of inflammatory response in muscle metabolism.
 ...
PMID:Reduced activity of serum creatine kinase in rheumatoid arthritis: a phenomenon linked to the inflammatory response. 815 84

Comparative genomics analysis of conserved gene cassettes demonstrated resemblance between a recently described cassette of genes involved in sulphoquinovose degradation in Escherichia coli K-12 MG1655 and a Bacilli cassette linked with lactose degradation. Six genes from both cassettes had similar functions related to carbohydrate metabolism, namely, hydrolase, aldolase, kinase, isomerase, transporter, and transcription factor. The Escherichia coli sulphoglycolysis cassette was thus predicted to be associated with lactose degradation. This prediction was confirmed experimentally: expression of genes coding for aldolase (yihT), isomerase (yihS), and kinase (yihV) was dramatically increased during growth on lactose. These genes were previously shown to be activated during growth on sulphoquinovose, so our observation may indicate multi-functional capabilities of the respective proteins. Transcription starts for yihT, yihV and yihW were mapped in silico, in vitro and in vivo. Out of three promoters for yihT, one was active only during growth on lactose. We further showed that switches in yihT transcription are controlled by YihW, a DeoR-family transcription factor in the Escherichia coli cassette. YihW acted as a carbon source-dependent dual regulator involved in sustaining the baseline growth in the absence of lac-operon, with function either complementary, or opposite to a global regulator of carbohydrate metabolism, cAMP-CRP.
 ...
PMID:The genes of the sulphoquinovose catabolism in Escherichia coli are also associated with a previously unknown pathway of lactose degradation. 2945 95

Statins are widely prescribed medications to prevent cardiovascular events. While self-limited statin myopathy is relatively common, statin-induced necrotizing autoimmune myopathy (SINAM) is extremely uncommon, with incidence of two cases per million per year. We present a case of SINAM after a decade of atorvastatin use, leading to debilitating weakness. A 71-year-old male presented with recurrent falls due to extreme bilateral lower-extremity weakness without pain or sensory changes. No fever, chills, rash, joint pain, recent infection or medication changes were reported. Reported taking atorvastatin 80 mg daily for 10 years. Physical examination revealed significant muscle wasting on right deltoid and proximal muscle weakness in all extremities. Lab tests included elevated creatinine kinase, aldolase, ESR, CRP and transaminases. Anti-HMGCR antibody was significantly elevated. TSH, serum protein electrophoresis and RPR were unremarkable. ANA, Anti-Jo-1, anti-Mi2, anti-SRP, anti-ds-DNA, anti-SSA and anti-SSB antibodies were negative. MRI of thigh revealed diffuse myositis. Electromyogram revealed an acute myopathic process. Muscle biopsy showed muscle necrosis and C5b-9 sarcolemmal deposits on non-necrotic fibers without rimmed vacuoles. He was diagnosed with SINAM. Statin was discontinued, and steroid, immunoglobulins and azathioprine were started with gradual improvement. Unlike the self-limiting statin myopathy, SINAM is more severe and is associated with significant proximal muscle weakness, markedly elevated CK and persistent symptoms despite statin discontinuation. Anti-HMGCR antibodies are present in 100% of cases. Immunosuppressants are the mainstay of treatment, and statin rechallenge should never be done in these cases. Although relatively rare, physicians should be cognizant of SINAM.
 ...
PMID:Statin-induced necrotizing autoimmune myopathy: an extremely rare adverse effect from statin use. 3200 59