A 43-year-old male with a high value of high density lipoprotein cholesterol (151 mg/dl) was found among subjects receiving annual health checks. We investigated the cholesteryl ester transfer protein (CETP) activity and conducted a family study. There was complete deficiency of CETP activities in the proband and his sister, and partial deficiency of CETP activities in his mother and daughter. Genetic analysis revealed a splicing defect (G to A point mutation) in intron 14 of the CETP gene.(Internal Medicine 33: 432-436, 1994)
Abstract One hundred and twenty‐three patients (72 males and 51 females) with the chief complaint of chest pain, seen at our department during the five‐year period from January 1982 to December 1986, were studied regarding their past medical history, physical findings, results of diagnostic tests, and prognosis. The ages of the subjects ranged from 3 to 16 years (mean 11.7 years) in boys and 3 to 20 years (mean 10.9 years) in girls, constituting 0.54% of the total number of the mean annual outpatients. Of these 123, 80 patients (65%) had chest pain lasting over one month, and 91 patients (74%) had a short time of duration of pain which improved within a few seconds to five minutes. In nine (7%) of the 123 patients, the pain was considered to be related to cardiovascular lesions and in 82 patients (67%) as being idiopathic chest pain. Chest pain in children is rarely due to serious primary cardiovascular diseases.
A sulfatide, O‐fatty‐acylated 3‐sulfogalactosylceramide at C6‐O on galactoside, was isolated from equine brain and the chemical structure was characterized by proton NMR and MS. The O‐acylation site of the acylated sulfatide was determined by the down‐field shift of protons attached to a carbon having an O‐acyl group in the NMR spectrum and by analysis of a partially methylated derivative before and after acetalization of the intact sulfatide using GC‐MS. The O‐acyl chain length was determined by GLC, revealing that it exclusively had palmitoyl and stearoyl residues as the major fatty acids. The enzymatic conversion to the O‐acyl sulfatide was further examined using equine brain microsomes as an enzyme source and different lipid substrates, resulting in O‐acylation of 3‐sulfogalactosylceramide from stearoyl CoA, while 6‐ O ‐acyl galactosylceramide was not O‐sulfated from phosphoadenosine phosphosulfate. The results were supported by the comparably different N‐linked fatty acid components between two lipid substrates, in which the component of 6‐ O ‐acyl sulfatide was mostly similar to that of sulfatide, but not to 6‐ O ‐acyl galactosylceramide.
A novel galactosylalkylglycerol modified with a long-chain cyclic acetal at the sugar moiety, 3-O-(4′6′-plasmalogalactosyl) 1-O-alkylglycerol, was isolated from equine brain. The presence of cyclic acetal linkage, its linked position, and the length of the acetal chain of the natural plasmalo lipid were determined by proton NMR spectroscopy and fast-atom bombardment–mass spectrometry, as well as gas chromatography–mass spectrometry and gas–liquid chromatography. To identify the isomeric stereostructure of the natural product, the plasmalo derivative was chemically synthesized from 3-O-galactosyl 2-O-acyl 1-O-alkyl glyceride through acetalization after deacylation. As a result, the direction and position of the acetal chain of the natural plasmalo lipid were characterized as an “endo”-type 4′,6′-O-acetal derivative linked to galactoside by comparison with the NMR data of the synthesized product. The chain lengths of alkyl and acetal groups were C14 for the former and C16 and C18 for the latter, and those for the latter group were mostly similar to those of plasmalogalactosyl ceramide, which was previously isolated from equine brain.—Yachida, Y., M. Kashiwagi, T. Mikami, K. Tsuchihashi, T. Daino, T. Akino, and S. Gasa. Novel plasmalogalactosylalkylglycerol from equine brain.
