Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0948265 (metabolic syndrome)
 24,271 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Dysfunction of the hypothalamic-pituitary-adrenal axis might contribute to metabolic disturbances frequently encountered in myotonic dystrophy. We hypothesized that abnormal adrenocortical sensitivity to ACTH and/or glucocorticoid metabolism could be important in myotonic dystrophy. We assessed diurnal rhythmicity of saliva cortisol, adrenocortical reactivity by a low-dose (1 microg) Synacthen test, and glucocorticoid metabolism in blood and urine in 42 myotonic dystrophy patients (22 males) and 50 controls (27 males). CTG triplet repeat expansions were quantified by Southern blot. Diurnal rhythmicity of saliva cortisol was flattened in both men and women with myotonic dystrophy, with significantly increased afternoon/evening levels (P < 0.013). The cortisol response to ACTH was associated with increased (CTG)(n) expansions in myotonic dystrophy men and women (P < 0.01). Male myotonic dystrophy patients also had increased activation of cortisol from cortisone by 11beta-hydroxysteroid dehydrogenase type 1. Both men and women with myotonic dystrophy had an increased 5alpha/5beta-reductase ratio (P < 0.05 and P < 0.01, respectively). Cortisol metabolites were related to the genetic defect in myotonic dystrophy men (P < 0.05), whereas ratios reflecting 11beta-hydroxysteroid dehydrogenase type 1 activity in myotonic dystrophy women were positively associated with obesity (P < 0.05). Increased 11beta-hydroxysteroid dehydrogenase type 1 activity and adrenocortical reactivity to ACTH are related to the genetic defect in myotonic dystrophy men, whereas abnormal glucocorticoid metabolism is associated with alterations in body composition in female myotonic dystrophy patients. These disturbances may explain altered circulating cortisol levels and contribute to features of the metabolic syndrome in myotonic dystrophy.
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PMID:Glucocorticoid metabolism and adrenocortical reactivity to ACTH in myotonic dystrophy. 1154 62

The daily variations in circulating fatty acid (FA) contents and lipid metabolism have been well documented. However, whether long chain polyunsaturated FA (PUFA) contents and expression of genes involved in their de novo synthesis exhibit daily rhythms are yet unknown. We conducted the present study to investigate the daily variations in PUFA contents in plasma and liver of pigs. Moreover, diurnal expression of genes encode fatty acid desaturases and elongases, which are key enzymes catalyzed de novo synthesis of long chain PUFA, were also explored. The results showed that long chain PUFA contents in plasma and liver both exhibited diurnal rhythms. Diurnal variations were also observed in mRNA expression of FASD1 (Delta 5-desaturase), FASD2 (Delta 6-desaturase), ELOVL5 (fatty acid elongase 5) and ELOVL2 in liver, with an unexpectedly high level at night. Moreover, our results showed a similarity between the diurnal patterns of FASD1, FASD2, ELOVL2, ELOVL5 and Period 2. These results indicated a high activity of the desaturase-elongase pathway at night in pigs. These findings have important physiological and pathophysiological implications, since long chain PUFA are essential for cell function and closely involved in the development of metabolic syndrome.
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PMID:Diurnal variations in polyunsaturated fatty acid contents and expression of genes involved in their de novo synthesis in pigs. 2801 51