Abnormalities of Bile Acids in Serum and Bile from Patients with Myotonic Muscular Dystrophy

1982 ◽  
Vol 62 (6) ◽  
pp. 627-642 ◽  
Author(s):  
Kaoru Tanaka ◽  
Kenzo Takeshita ◽  
Minoru Takita
Keyword(s):  
Muscular Dystrophy ◽  
Bile Acids ◽  
Myotonic Dystrophy ◽  
Gas Chromatography Mass Spectrometry ◽  
Side Chain ◽  
Gas Liquid Chromatography ◽  
Normal Person ◽  
Adult Type ◽  
Steroid Nucleus ◽  
Myotonic Muscular Dystrophy

1. Serum bile acids in seven patients with adult type myotonic dystrophy and 22 normal persons were quantitatively analysed by gas—liquid chromatography and gas chromatography—mass spectrometry for cholesterol, γ-glutamyltransferase and bilirubin. There was no bile obstruction in any patient. 2. Deoxycholic acid values in all mothers of patients with congenital type myotonic dystrophy were three times (2.1 μmol/l) that of the control (0.7 μmol/l). 3. Uncommon bile acids were detected in the patients' sera. One of them appeared to be dihydroxymono-oxocholanic acid, having a longer side chain. Another one appeared to be dihydroxycholanic acid, with a steroid-nucleus structure similar to chenodeoxycholic acid and with a longer side chain. 4. Biliary bile acids from three patients and one normal person were also analysed, and this revealed a remarkable decrease in ursodeoxycholic acid in the patients. 5. The presence of bile acid abnormality in patients with myotonic muscular dystrophy is proposed.

scholarly journals Degradation of Bile Acids by Soil and Water Bacteria

2021 ◽  
Vol 9 (8) ◽  
pp. 1759
Author(s):  
Franziska Maria Feller ◽  
Johannes Holert ◽  
Onur Yücel ◽  
Bodo Philipp
Keyword(s):  
Bile Acids ◽  
Heterotrophic Bacteria ◽  
Resistance Mechanisms ◽  
Side Chain ◽  
Steroid Nucleus ◽  
Metabolic Intermediates ◽  
Surface Active ◽  
Antimicrobial Barrier ◽  
Steroid Skeleton ◽  
Soil And Water

Bile acids are surface-active steroid compounds with a C5 carboxylic side chain at the steroid nucleus. They are produced by vertebrates, mainly functioning as emulsifiers for lipophilic nutrients, as signaling compounds, and as an antimicrobial barrier in the duodenum. Upon excretion into soil and water, bile acids serve as carbon- and energy-rich growth substrates for diverse heterotrophic bacteria. Metabolic pathways for the degradation of bile acids are predominantly studied in individual strains of the genera Pseudomonas, Comamonas, Sphingobium, Azoarcus, and Rhodococcus. Bile acid degradation is initiated by oxidative reactions of the steroid skeleton at ring A and degradation of the carboxylic side chain before the steroid nucleus is broken down into central metabolic intermediates for biomass and energy production. This review summarizes the current biochemical and genetic knowledge on aerobic and anaerobic degradation of bile acids by soil and water bacteria. In addition, ecological and applied aspects are addressed, including resistance mechanisms against the toxic effects of bile acids.

Electron Microscopy of Fibroblasts from Myotonic Muscular Dystrophy Patients

1981 ◽  
Vol 39 ◽  
pp. 498-499
Author(s):  
S. E. Miller ◽  
G. B. Hartwig ◽  
R. A. Nielsen ◽  
A. P. Frost ◽  
A. D. Roses
Keyword(s):  
Electron Microscopy ◽  
Muscular Dystrophy ◽  
Genetic Diseases ◽  
Skin Fibroblasts ◽  
Inborn Errors ◽  
Cytoplasmic Inclusions ◽  
Cultured Skin ◽  
Myotonic Muscular Dystrophy ◽  
Glycosaminoglycan Metabolism

Many genetic diseases can be demonstrated in skin cells cultured in vitro from patients with inborn errors of metabolism. Since myotonic muscular dystrophy (MMD) affects many organs other than muscle, it seems likely that this defect also might be expressed in fibroblasts. Detection of an alteration in cultured skin fibroblasts from patients would provide a valuable tool in the study of the disease as it would present a readily accessible and controllable system for examination. Furthermore, fibroblast expression would allow diagnosis of fetal and presumptomatic cases. An unusual staining pattern of MMD cultured skin fibroblasts as seen by light microscopy, namely, an increase in alcianophilia and metachromasia, has been reported; both these techniques suggest an altered glycosaminoglycan metabolism An altered growth pattern has also been described. One reference on cultured skin fibroblasts from a different dystrophy (Duchenne Muscular Dystrophy) reports increased cytoplasmic inclusions seen by electron microscopy. Also, ultrastructural alterations have been reported in muscle and thalamus biopsies from MMD patients, but no electron microscopical data is available on MMD cultured skin fibroblasts.

scholarly journals Measurement of human serum bile acids by gas–liquid chromatography

1965 ◽  
Vol 6 (2) ◽  
pp. 182-192 ◽  
Author(s):  
D.H. Sandberg ◽  
J. Sjövall ◽  
K. Sjövall ◽  
D.A. Turner
Keyword(s):  
Liquid Chromatography ◽  
Human Serum ◽  
Bile Acids ◽  
Gas Liquid Chromatography ◽  
Serum Bile Acids

Properties of Ca2+-activated K+ channels in erythrocytes from patients with myotonic muscular dystrophy

1998 ◽  
Vol 21 (11) ◽  
pp. 1465-1472 ◽  
Author(s):  
Mario Pellegrino ◽  
Monica Pellegrini ◽  
Paolo Bigini ◽  
Annalisa Scimemi
Keyword(s):  
Muscular Dystrophy ◽  
K Channels ◽  
Myotonic Muscular Dystrophy

Red blood cell and fibroblast membranes in Duchenne and myotonic muscular dystrophy

1980 ◽  
Vol 3 (1) ◽  
pp. 36-54 ◽  
Author(s):  
Allen D. Roses ◽  
Geoffrey B. Hartwig ◽  
Michael Mabry ◽  
Yasuho Nagano ◽  
Sara E. Miller
Keyword(s):  
Muscular Dystrophy ◽  
Blood Cell ◽  
Red Blood Cell ◽  
Myotonic Muscular Dystrophy
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