scholarly journals Peroxisomal fatty acid beta-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders.

1987 ◽  
Vol 80 (6) ◽  
pp. 1778-1783 ◽  
Author(s):  
R J Wanders ◽  
C W van Roermund ◽  
M J van Wijland ◽  
R B Schutgens ◽  
J Heikoop ◽  
...  
Keyword(s):  
Fatty Acids ◽  
Fatty Acid ◽  
Zellweger Syndrome ◽  
Long Chain Fatty Acids ◽  
Beta Oxidation ◽  
Peroxisomal Disorders ◽  
Cultured Skin ◽  
Fatty Acid Beta Oxidation ◽  
Long Chain ◽  
Peroxisomal Fatty Acid

Peroxisomal disorders

1991 ◽  
Vol 69 (7) ◽  
pp. 463-474 ◽  
Author(s):  
Hugo W. Moser ◽  
Ann Bergin ◽  
David Cornblath
Keyword(s):  
Fatty Acids ◽  
Fatty Acid ◽  
Zellweger Syndrome ◽  
Physiological Role ◽  
Ether Lipid ◽  
Diagnostic Techniques ◽  
Phospholipid Metabolism ◽  
Peroxisomal Disorders ◽  
Disease States ◽  
Long Chain

The concept that there are human disease states that are associated with abnormal peroxisomal function is of recent origin. This is due in part to the relatively recent discovery of the organelle itself by de Duve in 1983, and to the earlier belief that it was a vestigial structure in mammals. The recognition that the organelle is significant in mammals was ushered in by Paul Lazarow's observation that rat peroxisomes catalyze the β-oxidation of fatty acids. By 1981, more than 40 enzymes had been localized to the peroxisome, and the number continues to grow. Respect for the physiological role of the peroxisome in man has been heightened by our recent recognition that peroxisome malfunction causes profound disturbances. The Zellweger cerebro-hepato-renal syndrome represents the most serious peroxisomal disease. It is associated with malfunction of virtually every organ, and children with the disease usually do not survive beyond the 4th month. Application of newly developed diagnostic techniques has shown that the clinical spectrum and frequency of peroxisomal disorders are greater than had been realized. Eleven separate peroxisomal disorders have now been identified. Our laboratory alone has identified more than 2000 patients. Disturbances of very long chain fatty acid and ether phospholipid metabolism are present in 9 of the 11 peroxisomal disorders. In this presentation, we will provide an overview of the peroxisomal disorders, with emphasis on disturbances of fatty acid and ether lipid metabolism.Key words: peroxisomes, very long chain fatty acids, Zellweger syndrome, erucic acid, Refsum disease.

Ratios for very-long-chain fatty acids in plasma of subjects with peroxisomal disorders, as determined by HPLC and validated by gas chromatography-mass spectrometry.

1988 ◽  
Vol 34 (6) ◽  
pp. 1041-1045 ◽  
Author(s):  
N A Hall ◽  
G W Lynes ◽  
N M Hjelm
Keyword(s):  
Fatty Acids ◽  
Zellweger Syndrome ◽  
Hplc Method ◽  
Gas Chromatography Mass Spectrometry ◽  
Long Chain Fatty Acids ◽  
Peroxisomal Disorders ◽  
One Year ◽  
Derivatives Of ◽  
Long Chain ◽  
Chain Fatty Acids

Abstract We describe an HPLC method for measurement of ratios of concentrations of very-long-chain fatty acids (VLCFA) in plasma. The method, which involves ultraviolet detection of p-bromophenacyl derivatives of fatty acids, is validated by comparison with a gas chromatographic-mass spectrometric (GC-MS) method. The correlation between the ratios of 24-carbon fatty acids to 22-carbon fatty acids (C24/C22) estimated by the two methods was close (r = 0.976) as was the correlation for the C26/C22 ratios (r = 0.947). Increased VLCFA ratios could be demonstrated by either technique in patients with adrenoleukodystrophy, Zellweger syndrome, and infantile Refsum's disease. The HPLC method also measures phytanate concentrations in plasma. Control VLCFA ratios (for subjects without peroxisomal disorders) obtained by the two methods agree well with those reported by Moser et al. (Ann Neurol 1984; 16:628-41). For subjects younger than one year, ratios for C24/C22 and C26/C22 fatty acids were significantly greater than in older subjects.

scholarly journals Structure and lipid distribution of polyenoic very-long-chain fatty acids in the brain of peroxisome-deficient patients (Zellweger syndrome)

1987 ◽  
Vol 248 (1) ◽  
pp. 61-67 ◽  
Author(s):  
P Sharp ◽  
A Poulos ◽  
A Fellenberg ◽  
D Johnson
Keyword(s):  
Fatty Acids ◽  
Neutral Lipids ◽  
Zellweger Syndrome ◽  
Carbon Chain ◽  
Chain Elongation ◽  
Normal Brain ◽  
Long Chain Fatty Acids ◽  
Beta Oxidation ◽  
Long Chain ◽  
Chain Fatty Acids

The polyenoic fatty acids with carbon chain lengths from 26 to 38 (very-long-chain fatty acids, VLCFA) previously detected in abnormal amounts in Zellweger syndrome brain have been shown to be n-6 derivatives and therefore probably derived by chain elongation of shorter-chain n-6 fatty acids such as linoleic acid and arachidonic acid. Polyenoic VLCFA are also present in Zellweger syndrome liver, but this tissue differs significantly from brain in that the saturated and mono-unsaturated derivatives are the major VLCFA. Zellweger syndrome brain polyenoic VLCFA are present in the neutral lipids predominantly in cholesterol esters, with smaller amounts in the non-esterified fatty acid and triacylglycerol fractions. These fatty acids are barely detectable in any of the major phospholipids, but are present in significant amounts in an unidentified minor phospholipid. The polyenoic VLCFA composition of this lipid differs markedly from that observed for all other lipids, as it contains high proportions of pentaenoic and hexaenoic fatty acids with 34, 36 and 38 carbon atoms. A polar lipid with the chromatographic properties in normal brain contains similar fatty acids. It is postulated that the polyenoic VLCFA may play an important role in normal brain and accumulate in Zellweger syndrome brain because of a deficiency in the peroxisomal beta-oxidation pathway, although a possible peroxisomal role in the control of carbon-chain elongation cannot be discounted.

Profiles of very-long-chain fatty acids in plasma, fibroblasts, and blood cells in Zellweger syndrome, X-linked adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata

1993 ◽  
Vol 39 (8) ◽  
pp. 1632-1637 ◽  
Author(s):  
R B Schutgens ◽  
I W Bouman ◽  
A A Nijenhuis ◽  
R J Wanders ◽  
M E Frumau
Keyword(s):  
Fatty Acids ◽  
Blood Cells ◽  
Zellweger Syndrome ◽  
Syndrome X ◽  
Chondrodysplasia Punctata ◽  
Long Chain Fatty Acids ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Peroxisomal Disorders ◽  
Long Chain ◽  
Chain Fatty Acids

Abstract Profiles of saturated very-long-chain (> C22) fatty acids were studied in plasma, fibroblasts, erythrocytes, platelets, and leukocytes of patients affected by peroxisomal disorders such as Zellweger syndrome, X-linked adrenoleukodystrophy (X-ALD), and classic rhizomelic chondrodysplasia punctata (RCDP) and in controls. In Zellweger patients, the concentration of hexacosanoic acid (C26:0) and the C26:0/C22:0 ratio are greatly increased in plasma and fibroblasts. However, the plasma concentration of docosanoic acid (C22:0) is greatly decreased. Also in platelets, leukocytes, and to a lesser extent erythrocytes, the C26:0 concentrations and both the C26:0/C22:0 and C24:0/C22:0 ratios are greatly increased. The C24:0/C22:0 ratio is significantly increased in plasma, platelets, and leukocytes, but not in erythrocytes. In X-ALD, the C26:0 concentration and the C26:0/C22:0 and C24:0/C22:0 ratios are significantly increased in plasma, fibroblasts, platelets, and leukocytes, but the erythrocytes show substantial overlap in the 5-90% ranges between controls and patients. In RCDP, slightly increased C26:0 and C26:0/C22:0 ratios are found in erythrocytes, platelets, and leukocytes, but not in plasma and fibroblasts. We conclude that plasma and fibroblasts are the specimens of choice for biochemical diagnosis of Zellweger syndrome and X-ALD, respectively. The slight increase in C26:0 in blood cells of RCDP patients suggests a decreased flux of very-long-chain fatty acids through the peroxisomal beta-oxidation pathway in liver in this genetic disorder.

scholarly journals Differential Effects of Fatty Acid Saturation and Chain Length on NASH in Juvenile Iberian Pigs

2020 ◽  
Vol 4 (Supplement_2) ◽  
pp. 682-682 ◽  
Author(s):  
Kayla Dillard ◽  
Morgan Coffin ◽  
Gabriella Hernandez ◽  
Victoria Smith ◽  
Catherine Johnson ◽  
...  
Keyword(s):  
Fatty Acids ◽  
Body Weight ◽  
Fatty Acid ◽  
Liver Injury ◽  
Olive Oil ◽  
Coconut Oil ◽  
Long Chain Fatty Acids ◽  
Medium Chain ◽  
Long Chain ◽  
Chain Fatty Acids

Abstract Objectives Non-alcoholic fatty liver disease (NAFLD) represents the major cause of pediatric chronic liver pathology in the United States. The objective of this study was to compare the relative effect of inclusion of isocaloric amounts of saturated medium-chain fatty acids (hydrogenated coconut oil), saturated long-chain fatty acids (lard) and unsaturated long-chain fatty acids (olive oil) on endpoints of NAFLD and insulin resistance. Methods Thirty-eight 15-d-old Iberian pigs were fed 1 of 4 diets containing (g/kg body weight × d) 1) control (CON; n = 8): 0 g fructose, 10.5 g fat, and 187 kcal metabolizable energy (ME), 2) lard (LAR; n = 10): 21.6 g fructose, 17.1 g fat (100% lard) and 299 kcal ME, 3) hydrogenated coconut oil (COCO; n = 10): 21.6 g fructose, 16.9 g fat (42.5% lard and 57.5% coconut oil) and 299 kcal ME, and 4) olive oil (OLV, n = 10): 21.6 g fructose, 17.1 g fat (43.5% lard and 56.5% olive oil) and 299 kcal ME, for 9 consecutive weeks. Body weight was recorded every 3 d. Serum markers of liver injury and dyslipidemia were measured on d 60 at 2 h post feeding, with all other serum measures assessed on d 70. Liver tissue was collected on d 70 for histology, triacylglyceride (TG) quantification, and metabolomics analysis. Results Tissue histology indicated the presence of steatosis in LAR, COCO and OLV compared with CON (P ≤ 0.001), with a further increase in in non-alcoholic steatohepatitis (NASH) in OLV and COCO compared with LAR (P ≤ 0.01). Alanine and aspartate aminotransferases were higher in COCO and OLV (P ≤ 0.01) than CON. All treatment groups had lower liver concentrations of methyl donor's choline and betaine versus CON, while bile acids were differentially changed (P ≤ 0.05). COCO had higher levels of TGs with less carbons (Total carbons < 52) than all other groups (P ≤ 0.05). Several long-chain acylcarnitines involved in fat oxidation were higher in OLV versus all other groups (P ≤ 0.05). Conclusions Inclusion of fats enriched in medium-chain saturated and long-chain unsaturated fatty acids in a high-fructose high-fat diet increased liver injury, compared with fats with a long-chain saturated fatty acid profile. Further research is required to investigate the mechanisms causing this difference in physiological response to these dietary fat sources. Funding Sources ARI, AcornSeekers.

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