Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024591 (malignant hyperthermia)
 2,353 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The purpose of this investigation was to see whether or not the hypothetical disease susceptibility locus to ankylosing spondylitis is linked to the MLC determinant 27a. Firstly, we discovered a strong MLC determinant which we called 27a because of its association with the second series specificity W27. Later, we found that this determinant was the same as that which Jorgensen et al. (1973) found to be associated with the second series specificity W5. These MLC determinants may, therefore, be in linkage disequilibrium with more than one HL-A specificity (in this case, of the second series) as previously described by Dupont et al. (1973). However, we found no association between 27a and ankylosing spondylitis. On the other hand, we confirmed the association of ankylosing spondylitis with W27 and also found an increase of HL-A2 of the first series which, however, was not statistically significant. In view of the high incidence of HL-A2 in the general population, more information is required to definitely establish such an association. We found no special association with specificities AJ and Hu (Sa 532), third series antigens, but confirmed their linkage disequilibrium with W27. Disease predisposition loci seem, therefore, to be associated with either type of MHS marker, multiple sclerosis and MLC determinant 7a, or ankylosing spondylitis and the second series antigen W27. It will be interesting to discover whether there is any special significance of the association of one marker rather than another.
 ...
PMID:Ankylosing spondylitis and the major histocompatibility system. 4 91

The frequency of HL-A8 in myasthenia gravis is markedly increased in women (60-80%) but not in men. The MLC determinant, LD-8a, is frequently associated with HL-A8. Of the 37 female MS patients, 15 were LD-8a positive (41%), whereas of the males only one of seven was LD-8a positive. The frequency of HL-A8 was 68% in women and 29% in men with the disease. We therefore conclude that the gene which is responsible for the increased susceptibility to myasthenia gravis in women and which is present in the MHS region, is more closely linked to the SD-2 than to the LD-1 locus.
 ...
PMID:HL-A8 and LD-8a in patients with myasthenia gravis. 5 59

The intensity of the mixed lymphocyte reaction to H-2-linked mixed lymphocyte reaction stimulating genes is influenced by non-H-2 genotype. The same H-2 incompatibility results in a stronger mixed lymphocyte reaction when both partners have the C57BL/10ScSnPh genetic background than when they have the genetic background of the A/Ph strain. It is suggested that, as in man, the intensity of the mixed lymphocyte reaction to incompatibility at the MLR-S genes linked to the major histocompatibility complex is controlled by MLR-response genes not linked to MHS.
 ...
PMID:Influence of non-H-2 genotype on the response to H-2-linked mixed lymphocyte reaction stimulating (MLR-S) genes. 12 14

Vastus lateralis muscle was excised from normal pigs and from pigs susceptible to malignant hyperthermia. Anesthesia consisted of diazepam, N2O:O2, and a lidocaine field block. In the susceptible (MHS) pigs, respiratory control in mitochondria of excised muscle was normal, while electron transport was accelerated. Glutamate log Q3's and log Q4's were in inverse linear relationship to porcine weights. In the presence of glutamate, state 3 respiration was 3.5 times, and state 4 respiration 3.2 times, higher in MHS than in normal mitochondria (independent of weight or halothane dose). Thus, the MHS mitochondria were able to produce ATP more efficiently than normal mitochondria. In vitro, halothane inhibited glutamate Q3's and R.C.I.'s, slightly increased succinate Q3's and R.C.I.'s, had no significant effect on glutamate or succinate Q4's, and, moderately lowered glutamate and succinate P/O ratios. These changes were similar to those observed in normal pigs. Calcium uptake into MHS mitochondria was markedly less than normal but was not significantly altered by in-vitro halothane. These results suggest a mitochondrial membrane component for the defect of procine malignant hyperthermia since calcium is normally associated with the formation of the phospholipid lattice of this membrane. (Key words: Hyperthermia, malignant; Metabolism, mitochondrial; Muscle, skeletal, mitochondria; Anesthetics, volatile, halotbane; Ions, calcium.)
 ...
PMID:Porcine malignant hyperthermia: effects of halothane on mitochondrial respiration and calcium accumulation. 16

MHS and normal pigs were anaesthetized with nitrous oxide and diazepam. Halothane 1% was then administered for 1 hr. Immediately before and immediately after the halothane inhalation, 10 g of vastus lateralis muscle was excised. SR was isolated from this muscle. Calcium accumulation by the MHS sarcoplasmic reticulum in the absence of halothane was greater than normal. Halothane in vitro produced a similar increase in calcium uptake into both the MHS and the normal SR. Halothane in vivo significantly reduced calcium accumulation by hyperthermic SR but had no significant effect on calcium uptake into the normal SR. Thus the action of halothane on the MHS sarcoplasmic reticulum is indirect, occurring only in the intact cell. It is possibly a result of the deleterious effect which lack of ATP, a low pH or a high temperature is likely to have on the calcium accumulating mechanism of the SR membrane. Our results suggest that the primary defects of porcine and human malignant hyperthermia are not entirely synonymous.
 ...
PMID:Calcium uptake into muscle of pigs susceptible to malignant hyperthermia: in vitro and in vivo studies with and without halothane. 23 50

Human endothelial cell monolayers prepared from umbilical veins have been incubated with aspirin (1--2 mM) dissolved in Hepes modified solution and in platelet-rich plasma. They have also been incubated with plasma prepared from subjects before and after intake of aspirin giving a mean plasma concentration of 0.5 mM. The effects of the endothelial cells on ADP and collagen-induced platelet aggregation and malondialdehyde production in platelet-rich plasma have been tested. The endothelial cells had a spontaneous inhibitory effect on all three parameters. This effect was abolished when the cells were incubated with aspirin dissolved in MHS for 20 min and the increase in effect observed when platelet-rich plasma was incubated with endothelial cells for a period of 30 min was similarly inhibited when aspirin was dissolved in plasma or when plasma prepared from subjects who had taken aspirin were used. Aspirin had no inhibitory effect on prostacyclin (PGI2) with regard to the effect of PGI2 on platelets. On the contrary, the two compounds had an additive inhibitory effect on platelet aggregation induced by ADP and collagen. These findings should be considered with regard to the use of aspirin as an antithrombotic agent.
 ...
PMID:The inhibitory effect of aspirin on human endothelial cells. 36 62

Suxamethonium induced a contracture in caffeine pretreated human muscle in vitro. The contracture was significantly greater (P less than 0.001) with MHS muscle compared with muscle from normal subjects. This reaction is now used as an additional screening test for the MHS phenotype. The contracture was prevented by pretreatment with dantrolene.
 ...
PMID:A screening test for the malignant hyperpyrexia phenotype using suxamethonium-induced contracture of muscle treated with caffeine and its inhibition by dantrolene. 49 72

A therapeutic and prophylactic dose of dantrolene administered to malignant hyperthermia-susceptible pigs had no effect on the abnormal in vitro contracture response of subsequent muscle biopsies. The in vitro contracture response of MHS pig muscle to halothane and to caffeine was not altered by prior dantrolene treatment. It is concluded that prior dantrolene administration has no effect on the discrimination of porcine MSH by in vitro pharmacological testing.
 ...
PMID:Does prior dantrolene affect the in vitro diagnosis of malignant hyperthermia susceptibility? 52 74

Lactic acid, glucose, creatine phosphokinase (CPK) and some mineral components were determined in the blood of piglets before and after a halothane test of five minutes (only before for CPK). Two different experimental groups were studied: 222 Pietrain piglets from an INRA experimental herd, and 325 piglets from the Large White, French Landrace and Belgian Landrace breeds entering performance testing stations. Animals reacting positively to halothane ("MHS" piglets) have significantly higher blood levels of lactic acid and potassium before anesthesia than normal animals. CPK is also higher, except for the Belgian Landrace: in this breed CPK shows the same average value and distribution in the two groups of piglets (normal and MHS). There are also breed differences in blood magnesium, independently of the reaction to halothane. But the breed differences observed in lactic acid and CPK are related to the proportion of MHS piglets in each breed. Anesthesia by means of halothane lowers the measured blood characteristics--except for glucose--in normal animals, and rises them--except for potassium--in MHS piglets. The results are discussed in view of the incomplete discrimination between the two types of pigs, with a 5 minutes test, and, particularly, considering possible breed differences in that respect.
 ...
PMID:[Blood characteristics of some french pig populations. Relationships with the malignant hyperthermia syndrome (author's transl)]. 54 25

During the course of a routine H-2 alloimmunization, individual mice within a group of inbred animals produced anti-MHS antibodies of differing specificities. These different antibody populations were directed against various but probably cross-reacting components of complex HLA and H-2 gene products.
 ...
PMID:Individual mice of one inbred strain produce anti-H-2 and anti-HLA antibodies of different specificities. 69 15


1 2 3 4 5 6 7 8 9 10 Next >>