Genetic Variants of Cytochrome CYP2D6 in Two Mixed Chilean Populations

2016 ◽  
Vol 82 (1-2) ◽  
pp. 16-20
Author(s):  
Mónica Acuña ◽  
Eric Pinto ◽  
Paulina Olivares ◽  
Carolina Ríos
Keyword(s):  
Cytochrome B ◽  
Genetic Variants ◽  
Chilean Populations

Some Observations on Intra-Mitochondrial Crystals

1977 ◽  
Vol 35 ◽  
pp. 406-407
Author(s):  
J. A. Clarke ◽  
D. N. Landon ◽  
P. R. Ward
Keyword(s):  
Cytochrome B ◽  
Mitochondrial Myopathy ◽  
Crystallographic Analysis ◽  
Mitochondrial Membranes ◽  
Electron Microscopes ◽  
Muscle Biopsies

Intra-mitochondrial crystals have been noted in muscle biopsies from patients in a wide variety of diseased states. As far as we are aware, none of these crystals have been subjected to detailed crystallographic analysis. Recently, similar crystals were observed in a biopsy from a patient with a mitochondrial myopathy, characterised by a deficiency in reducible cytochrome b (Morgan-Hughes, J. A., Darveniza, P., Kahn, S. N., Landon, D. N., Sherratt, R. M., Land, J. M. and Clark, J. B., 1977, Brain, In Press). Aldehyde-fixed, osmicated resin imbedded material was examined using Siemens, JEOL and Phillips electron microscopes with goniometer specimen stages. The crystals generally lay between the outer and inner mitochondrial membranes and measured 1 - 3 μm in length and 0.1 - 0.3 μm in width. Characteristically, these crystals revealed specific periodicities.

Genetic Variation: Impact on Folate (and Choline) Bioefficacy

2010 ◽  
Vol 80 (45) ◽  
pp. 319-329 ◽  
Author(s):  
Allyson A. West ◽  
Marie A. Caudill
Keyword(s):  
Carbon Metabolism ◽  
Genetic Variants ◽  
Plasma Homocysteine ◽  
Water Soluble ◽  
Gene Interactions ◽  
Dietary Folate ◽  
Methyl Donors ◽  
Common Genetic Variants ◽  
One Carbon Metabolism ◽  
The Impact

Folate and choline are water-soluble micronutrients that serve as methyl donors in the conversion of homocysteine to methionine. Inadequacy of these nutrients can disturb one-carbon metabolism as evidenced by alterations in circulating folate and/or plasma homocysteine. Among common genetic variants that reside in genes regulating folate absorptive and metabolic processes, homozygosity for the MTHFR 677C > T variant has consistently been shown to have robust effects on status markers. This paper will review the impact of genetic variants in folate-metabolizing genes on folate and choline bioefficacy. Nutrient-gene and gene-gene interactions will be considered along with the need to account for these genetic variants when updating dietary folate and choline recommendations.

Genetic Variants of TBX5 in Holt-Oram Syndrome Patients

2016 ◽  
Vol 64 (S 01) ◽  
Author(s):  
M. Dreßen ◽  
H. Lahm ◽  
K. Adamzcyk-Wolf ◽  
J. Cleuziou ◽  
J. Kasnar-Samprec ◽  
...  
Keyword(s):  
Genetic Variants
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