α-Synuclein Gene Deletion Decreases Brain Palmitate Uptake and Alters the Palmitate Metabolism in the Absence of α-Synuclein Palmitate Binding†

Biochemistry ◽  
2005 ◽  
Vol 44 (23) ◽  
pp. 8251-8259 ◽  
Author(s):  
Mikhail Y. Golovko ◽  
Nils J. Faergeman ◽  
Nelson B. Cole ◽  
Paula I. Castagnet ◽  
Robert L. Nussbaum ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Palmitate Uptake ◽  
Palmitate Metabolism

The Effect of Ouabain on Substrate Metabolism in the Isolated Perfused Rat Heart

1971 ◽  
Vol 49 (5) ◽  
pp. 412-419 ◽  
Author(s):  
Robert J. Hoeschen
Keyword(s):  
Glucose Uptake ◽  
Rat Heart ◽  
Glucose Utilization ◽  
Glycerol Release ◽  
Perfused Heart ◽  
Perfused Rat Heart ◽  
Isolated Perfused Rat Heart ◽  
Tissue Lipids ◽  
Palmitate Uptake ◽  
Palmitate Metabolism

The effect of ouabain (2, 5, and 10 μg/ml) on the uptake and oxidation of 5 mM glucose-U-14C and 0.4 mM palmitate-1-14C was determined in the isolated perfused rat heart. During 30-min perfusions, 5 and 10 μg/ml ouabain enhanced glucose uptake and 10 μg/ml also increased glucose oxidation. Palmitate uptake, oxidation, and incorporation into tissue lipids were unaffected by ouabain. The addition of glucose did not alter the lack of effect of ouabain on palmitate metabolism, but the presence of palmitate inhibited the stimulatory effect of ouabain on glucose uptake. The ouabain enhancement of glucose uptake was not associated with any change in glycerol release from the perfused heart, nor did ouabain increase the stimulated glucose utilization due to insulin. The concentrations of ouabain used in these experiments were shown to have an inotropic effect when the glycoside was added after 45 min of control perfusion. Thus, ouabain had no effect on palmitate metabolism. The enhancement of glucose uptake and oxidation was not due to an antilipolytic effect, nor did ouabain potentiate the effect of insulin on glucose transport. The ouabain effect on glucose utilization was associated with, but not necessarily a result of, increased contractility.

FMR2 gene deletion as a cause of non-specific mental retardation and autistic behavior in two brothers

2010 ◽  
Vol 41 (02) ◽  
Author(s):  
GM Stettner ◽  
B Auber ◽  
M Shoukier ◽  
C Höger ◽  
K Brockmann
Keyword(s):  
Mental Retardation ◽  
Gene Deletion ◽  
Autistic Behavior

Long-term follow-up of a family with a large AIP gene deletion: variable phenotypes and challenges in the management

2017 ◽  
Author(s):  
Pedro Marques ◽  
Mary Dang ◽  
Arla Ogilvie ◽  
Helen Storr ◽  
Michael Powell ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Long Term Follow Up ◽  
Aip Gene

scholarly journals Association of Genetic Polymorphisms in Oxidative Stress and Inflammation Pathways with Glaucoma Risk and Phenotype

2021 ◽  
Vol 10 (5) ◽  
pp. 1148
Author(s):  
Makedonka Atanasovska Velkovska ◽  
Katja Goričar ◽  
Tanja Blagus ◽  
Vita Dolžan ◽  
Barbara Cvenkel
Keyword(s):  
Oxidative Stress ◽  
Ocular Hypertension ◽  
Gene Deletion ◽  
Open Angle Glaucoma ◽  
Protective Role ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Gstm1 Gene ◽  
Stress Genes ◽  
The Impact

Oxidative stress and neuroinflammation are involved in the pathogenesis and progression of glaucoma. Our aim was to evaluate the impact of selected single-nucleotide polymorphisms in inflammation and oxidative stress genes on the risk of glaucoma, the patients’ clinical characteristics and the glaucoma phenotype. In total, 307 patients with primary open-angle glaucoma or ocular hypertension were enrolled. The control group included 339 healthy Slovenian blood donors. DNA was isolated from peripheral blood. Genotyping was performed for SOD2 rs4880, CAT rs1001179, GPX1 rs1050450, GSTP1 rs1695, GSTM1 gene deletion, GSTT1 gene deletion, IL1B rs1143623, IL1B rs16944, IL6 rs1800795 and TNF rs1800629. We found a nominally significant association of GSTM1 gene deletion with decreased risk of ocular hypertension and a protective role of IL1B rs16944 and IL6 rs1800629 in the risk of glaucoma. The CT and TT genotypes of GPX1 rs1050450 were significantly associated with advanced disease, lower intraocular pressure and a larger vertical cup–disc ratio. In conclusion, genetic variability in IL1B and IL6 may be associated with glaucoma risk, while GPX and TNF may be associated with the glaucoma phenotype. In the future, improved knowledge of these pathways has the potential for new strategies and personalised treatment of glaucoma.

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