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  • 1
    Electronic Resource
    Electronic Resource
    Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD) (1995)
    Springer
    Human genetics 〈Berlin〉 95 (1995), S. 491-494 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Deficiency of lysosomal acid lipase is expressed in two distinct recognizable phenotypes. Wolman disease represents the severe early onset form, whereas cholesterol ester storage disease is the more benign late onset type. Previous studies have indicated that compound heterozygosity consisting of a G → A mutation at the 3′ splice junction of exon 8 (E8SJM-allele) together with a null allele of the gene encoding lysosomal acid lipase leads to cholesterol ester storage disease. We have now observed homozygosity for the G → A splice junction mutation in a non-related Spanish kindred with the same disease. As expected, the residual activity of lysosomal acid lipase is higher in this case, suggesting that the E8SJM-allele is associated with low residual acid lipase activity. However, the phenotype of the homozygous propositus is more severe compared with the previously described case, indicating that no direct relationship exists between the genotype or residual LAL activity and the precise cholesterol or triglyceride levels in a given patient. Nevertheless, our findings provide convincing evidence that homozygosity for the E8SJM-allele causes cholesterol ester storage disease to at least the same extent as compound heterozygosity consisting of this allele and a null allele.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00223858
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  • 2
    Electronic Resource
    Electronic Resource
    A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: Impact on serum lipoprotein concentrations (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 265-267 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A frequent missense mutation (Thr-6Pro) found in the prepeptide of the lysosomal acid lipase (LAL) gene was analyzed in a cohort of 1003 randomly selected samples from Germany, Japan and Sardinia (Italy). Using the mutagenically separated polymerase chain reaction (MS-PCR), allele frequencies of 0.269, 0.238 and 0.245 were determined in the three populations, respectively. Statistical analysis showed a lack of association with a dyslipidemic phenotype in all three groups. Additionally, in a subgroup of 126 German individuals no association was observed between genotype and LAL activity. We conclude that this mutation appears to be a frequent LAL gene polymorphism causing no impaired function of the enzyme and no measurable dyslipidemia in the general population.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02265280
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  • 3
    Electronic Resource
    Electronic Resource
    Phytanic Acid Accumulation Is Associated with Conduction Delay and Sudden Cardiac Death in Sterol Carrier Protein-2/Sterol Carrier Protein-x Deficient Mice (2004)
    350 Main Street , Malden , MA 02148-5018 , USA , and 9600 Garsington Road , Oxford OX4 2DQ , UK . : Blackwell Science Inc
    Journal of cardiovascular electrophysiology 15 (2004), S. 0 
    Details
    ISSN: 1540-8167
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Introduction: The sterol carrier protein-2 gene encodes two functionally distinct proteins: sterol carrier protein-2 (SCP2, a peroxisomal lipid carrier) and sterol carrier protein-x (SCPx, a peroxisomal thiolase known as peroxisomal thiolase-2), which is involved in peroxisomal metabolism of bile acids and branched-chain fatty acids. We show in this study that mice deficient in SCP2 and SCPx (SCP2null) develop a cardiac phenotype leading to a high sudden cardiac death rate if mice are maintained on diets enriched for phytol (a metabolic precursor of branched-chain fatty acids). Methods and Results: In 210 surface and 305 telemetric ECGs recorded in wild-type (C57BL/6; wt; n = 40) and SCP2 null mice (n = 40), no difference was observed at baseline. However, on diet, cycle lengths were prolonged in SCP2 null mice (262.9 ± 190 vs 146.3 ± 43 msec), AV conduction was prolonged (58.3 ± 17 vs 42.6 ± 4 ms), and QRS complexes were wider (19.1 ± 5 vs 14.0 ± 4 ms). In 11 gene-targeted Langendorff-perfused hearts isolated from SCP2 null mice after dietary challenge, complete AV blocks (n = 5/11) or impaired AV conduction (Wenckebach point 132 ± 27 vs 92 ± 10 msec; P 〈 0.05) could be confirmed. Monophasic action potentials were not different between the two genotypes. Left ventricular function studied by echocardiography was similar in both strains. Phytanic acid but not pristanic acid accumulated in the phospholipid fraction of myocardial membranes isolated from SCP2 null mice. Conclusion: Accumulation of phytanic acid in myocardial phospholipid membranes is associated with bradycardia and impaired AV nodal and intraventricular impulse conduction, which could provide an explanation for sudden cardiac death in this model.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1540-8167.2004.03679.x
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  • 4
    Electronic Resource
    Electronic Resource
    Peroxisomes Contain an Enzyme with 17β-Estradiol Dehydrogenase, Fatty Acid Hydratase/Dehydrogenase, and Sterol Carrier Activity (1996)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 804 (1996), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1996.tb18669.x
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  • 5
    Electronic Resource
    Electronic Resource
    Ipsi- and contralateral changes in rabbit soleus myosins by cross-reinnervation (1981)
    Springer
    Pflügers Archiv 390 (1981), S. 246-249 
    Details
    ISSN: 1432-2013
    Keywords: Cross-reinnervation ; Myosin light chains ; Isomyosins ; Contralateral effects
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Cross-reinnervation of soleus muscle in the adult rabbit induces changes in myosin light chain and isomyosin patterns. The transformation of the light chain pattern consists of a decrease in LC1′s and LC2s and an induction of the three fast type myosin light chains. The transition in the isomyosin pattern consists of a decrease of the slow type isomyosin SM and an induction of fast type isomyosins FM1, FM2 and FM3 normally seen in fast-twitch rabbit muscle. An additional isomyosin of intermediate electrophoretic mobility, which resembles isomyosin 4 of rat muscle, is induced. These changes are not restricted to the cross-reinnervated soleus muscle but are also seen, although to a lesser extent, in the contralateral soleus muscle. It is suggested that the altered afferent activity brought about by cross-reinnervation, is neurally transmitted to the opposite side and leads to a change in efferent activity to the contralateral muscle.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00658269
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  • 6
    Electronic Resource
    Electronic Resource
    Peroxisomes in lipid metabolism (1998)
    New York, N.Y. : Wiley-Blackwell
    Journal of Cellular Biochemistry 72 (1998), S. 158-167 
    Details
    ISSN: 0730-2312
    Keywords: peroxisomes ; lipid metabolism ; H2O2 metabolism ; Life and Medical Sciences ; Cell & Developmental Biology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology , Medicine
    Notes: Gene targeting and the elucidation of mutations underlying inherited peroxisomal diseases have provided new insights in peroxisomal lipid metabolism in vivo. The work led to the identification of a novel peroxisomal β-oxidation pathway and established clearly that genes, which are required for efficient peroxisomal oxidation of fatty acids, at the same time are key regulators of PPARα function in vivo. The new mouse models may provide helpful tools in the search for unknown natural PPARα agonists and in screening for in vivo PPARα antagonists. J. Cell Biochem. Suppls. 30/31:158-167, 1998. © 1998 Wiley-Liss, Inc.
    Additional Material: 1 Ill.
    Type of Medium: Electronic Resource
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