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Y Antoku

Publications and source records attributed to Y Antoku.

At least 37 records · Page 2Linked to original sources
PubMed1989

A comparison of erythrocytes, lymphocytes and blood plasma as samples in fatty acid analysis for the diagnosis of adrenoleukodystrophy.

We studied the very-long-chain fatty acids of blood plasma, erythrocyte membranes and lymphocytes in 4 adrenoleukodystrophy patients, 5 adrenoleukodystrophy obligate carriers, 12 normal controls and 81 patients with various neurological disorders by high-performance liquid chromatography and compared the reliabilities in the diagnosis of adrenoleukodystrophy of these 3 components of peripheral blood. Of 81 patients with various neurological disorders, 2 myotonic dystrophy and 2 spinocerebellar degeneration patients showed increased ratios of C26:0 to C22:0 in erythrocyte membranes, but not in blood plasma and lymphocytes. None of the 12 normal controls showed increased ratios of C26:0 to C22:0 in erythrocyte membranes, blood plasma and lymphocytes. These results suggest that fatty acid analysis for the diagnosis of adrenoleukodystrophy is more reliable when blood plasma and lymphocytes are used than when erythrocyte membranes are used.

Adolescent↗
PubMed1988

Carrier detection for adrenoleukodystrophy by high-performance liquid chromatography.

With a newly devised method of high-performance liquid chromatography (HPLC), we scrutinized lipid extraction of very-long-chain fatty acids of cultured skin fibroblasts from obligate (n = 4) and possible (n = 3) carriers for adrenoleukodystrophy (ALD) in order to establish the best method to detect a carrier for the ALD gene. All four methods (total esterified fatty acids, total fatty acids with acetonitrile-HCl, total fatty acids with methanolic-HCl, and triacylglycerol fraction) were applicable to carrier detection, but from the standpoint of simplicity and sensitivity, the method using total fatty acids with acetonitrile-HCl seemed to be the best. This is the first study of ALD carrier detection in which cultured skin fibroblasts are investigated using HPLC as an analytical method.

Adrenoleukodystrophy↗
PubMed1987

Decreased plasmalogen ratios in cultured skin fibroblasts from myotonic dystrophy.

It has become known that hypolipidemic agents, which can induce experimental myotonia in humans and animals, may alter the lipid metabolisms of intracellular organelles, peroxisomes. However, there has been no reported study on peroxisomal lipid metabolisms in myotonic dystrophy showing myotonia as well as experimental myotonia. We investigated one of the peroxisomal lipid metabolisms, i.e., plasmalogen metabolism in cultured skin fibroblasts from myotonic dystrophy, and found plasmalogen ratios to be significantly reduced.

Cells, Cultured↗
PubMed1986

Plasmalogen deficiency in cultured skin fibroblasts from neonatal adrenoleukodystrophy.

The plasmalogen ratio (defined as area ratio of lysophosphatidylethanolamine to the diacyl form of phosphatidylethanolamine) was investigated in cultured skin fibroblasts from neonatal adrenoleukodystrophy (N = 4) and X-linked recessive (N = 3) in addition to Zellweger syndrome (N = 3) because plasmalogen was reported to be reduced in Zellweger syndrome. The ratio was markedly decreased in all cases of Zellweger syndrome studied and in three of the four cases of neonatal adrenoleukodystrophy, whereas it was normal in the X-linked cases. This is the first documentation of a plasmalogen deficiency in neonatal adrenoleukodystrophy.

Adrenoleukodystrophy↗
PubMed1986

Adrenoleukodystrophy and variants. Clinical, neurophysiological and biochemical studies in patients and family members.

Clinical, neurophysiological and biochemical studies were performed in patients with various forms of adrenoleukodystrophy (ALD) and their family members. The patients showed an abnormality in saturated very long chain fatty acids and in the somatosensory and brain stem auditory or visual evoked potentials. Female presumptive carriers without abnormal neurological manifestations also showed abnormality in the somatosensory or brain stem auditory evoked potentials and in saturated very long chain fatty acids. One ALD patient and his mother, a female carrier, had the decreased beta-galactosidase activity. The increase in saturated very long chain fatty acids was found, not only in sphingomyelin, but also in phosphatidylcholine and phosphatidylserine. Our results suggest that a generalized abnormal metabolism of VLFA and an abnormality in the central nervous system exist in our patients and female carriers.

Adrenoleukodystrophy↗
PubMed1985

Tightly bound fatty acids in the erythrocyte membrane proteins in myotonic dystrophy.

The composition of "tightly bound fatty acids" and of loosely bound fatty acids in the erythrocyte membrane proteins from patients with myotonic dystrophy were compared with those of sex- and nearly age-matched normal controls. No significant differences could be detected in the composition of tightly bound fatty acids and there was no gross abnormality in the composition of loosely bound fatty acids between myotonic dystrophy patients and normal controls, although small differences were observed.

Adolescent↗
PubMed1985

Very long-chain fatty acids in neutral lipids and glycerophospholipids of adrenoleukodystrophy-cultured skin fibroblasts.

Three major lipid fractions, i.e., cholesterol ester, triacylglycerol and glycerophospholipids, were investigated cultured fibroblasts to clarify whether very long-chain fatty acids were accumulated or not. Abnormally accumulated very long-chain fatty acids were confirmed in all three lipid fractions. Our results support our previous report that there may be a generalized abnormal metabolism of very long-chain fatty acids in adrenoleukodystrophy.

Adrenoleukodystrophy↗
PubMed1985

Fatty acid compositions of erythrocytes, mononuclear cells and blood plasma of patients with myotonic dystrophy.

Fatty acid compositions of erythrocyte membrane phospholipids including phosphatidylethanolamine subclasses, blood plasma and mononuclear cells of 8 patients with myotonic dystrophy (MyD) and 8 normal controls were analyzed by high performance liquid chromatography. Slight changes (decreased C18:2 and increased C16:0) in the fatty acid compositions of erythrocyte membrane glycerophospholipids and blood plasma lipids were observed in MyD. There was no significant difference in the fatty acid composition of mononuclear cells between MyD and normal controls. It seems that no essential defect exists in either the erythrocyte membrane fatty acid composition or the fatty acid metabolism itself in MyD.

Adolescent↗
PubMed1985

A study on erythrocyte membrane plasmalogen in myotonic dystrophy.

Phospholipid classes that included plasmalogens of erythrocyte membranes in seven myotonic dystrophy (MyD) patients and seven normal controls were analyzed by HPLC. No significant difference in phospholipid classes was found between patients with MyD and normal controls, but there was a visible difference in peak profiles of compounds of the phosphatidylethanolamine class. In the study of plasmalogens, we used two preparation methods: exposure to HCl and deacylation with mild alkaline. The area ratio of the plasmalogen form to the diacyl form in the phosphatidylethanolamine class of MyD erythrocyte membranes was significantly lower than that of normal controls. Fatty acid analyses showed that fatty acids of both phosphatidylethanolamine subclasses have less unsaturation in MyD.

Adolescent↗
PubMed1985

Adrenoleukodystrophy: fatty acid analysis of total glycerophospholipids in erythrocyte membranes.

The saturated fatty acids released from the erythrocyte membranes of four patients with adrenoleukodystrophy (ALD) and 14 diseased controls were analyzed by high performance liquid chromatography. The ratios of C26:0 to other saturated fatty acids in ALD were higher than those of diseased controls, and neither false-positive nor false-negative samples were observed. These results suggest that a study of fatty acids of total glycerophospholipids in erythrocyte membranes by high performance liquid chromatography is a useful diagnostic method of ALD.

Adrenoleukodystrophy↗
PubMed1985

Adrenoleukodystrophy: abnormality of "tightly bound" fatty acids in the erythrocyte membrane proteins.

"Tightly bound" and "loosely bound" fatty acids in erythrocyte membranes were analyzed in three patients with adrenoleukodystrophy, three probable carriers, and eight controls. The ratios of C28:0 or C26:0 to C22:0 or C20:0 in the tightly bound fatty acids of three patients were significantly higher than those of controls, and the ratios in two of three probable carriers were higher than those in controls. The ratios of C26:0 to C22:0 or C20:0 in the loosely bound fatty acids of three patients and three probable carriers were also significantly higher than those of controls. Since tightly bound fatty acids in membrane proteins are found not only in erythrocyte membranes but also in myelin proteins, the abnormality of tightly bound fatty acids may be related to the demyelination in adrenoleukodystrophy.

Adolescent↗
PubMed1985

Plasmalogen analysis in erythrocyte membranes of adrenoleukodystrophy.

Very long-chain fatty acids accumulate in both adrenoleukodystrophy and Zellweger's syndrome. Plasmalogen content is decreased in Zellweger's syndrome. We therefore analyzed plasmalogen in erythrocyte membrane glycerophospholipids of three patients with adrenoleukodystrophy and eight normal controls. There was no significant difference in the ratio of plasmalogen and diacyl forms in the phosphatidylethanolamine class of the patients and controls. This observation suggests that plasmalogen metabolism differs in adrenoleukodystrophy and Zellweger's syndrome.

Adrenoleukodystrophy↗
PubMed1984

Adrenoleukodystrophy: abnormality of very long-chain fatty acids in erythrocyte membrane phospholipids.

Long-chain fatty acids in erythrocyte membrane phospholipids were analyzed in three patients with adrenoleukodystrophy (ALD) and four diseased controls with other neurologic diseases by high performance liquid chromatography (HPLC). HPLC chromatograms showed the increase of a very long-chain fatty acid C26:0 in glycerophospholipids of ALD erythrocyte membranes, which was not so prominent in sphingomyelin. The ratio of C26:0 to C22:0 increased in glycerophospholipids as well as sphingomyelin in ALD. These results suggest that ALD has a generalized abnormal metabolism of very long-chain saturated fatty acids.

Adolescent↗
PubMed1984

[2 autopsy cases of congenital muscular dystrophy of Fukuyama type--a typical and an atypical cases].

Two autopsy cases of congenital muscular dystrophy of Fukuyama type (F-CMD) were described. The first case was diagnosed clinically and pathologically as its typical case. Neither his family history nor the history of his prenatal period were contributory. He had suffered from muscle weakness and atrophy since his birth. Serum CPK was markedly elevated. EMG and muscle biopsy proved dystrophic changes of the skeletal muscles. In addition, he manifested mental retardation and attacks of convulsion. EEG failed to elicit remarkable changes, but PEG represented ventricular dilatation. He died of respiratory insufficiency at age 12. His postmortem examination showed variegated anomalies in the nervous system. Extensive micropolygyria was present in the cerebrum and cerebellum accompanied by adhesions between the bilateral cerebral hemispheres. Assymmetry of the longitudinal fibers was pointed out in the pontine base. Anterior horn cells were atrophic and moderately depopulated. On the other hand, the second patient was an atypical F-CMD case in symptoms, signs and pathology. His grand-mothers on both father's and mother's sides wee first cousins. His three siblings showed no similar disorders. His mother developed slight gestational toxicosis in the sixth and seventh months of pregnancy. His muscle weakness, contracture of the bilateral hip-joints and clubfoot had been observed since his birth. Physical and neurological examinations at age 6 showed deformity of the skull, myopathic face, macroglossia, high-arched palate, pigeon chest, scoliosis of the thoracic spine. In addition, generalized muscular atrophy, hypotonia and areflexia were recognized. Pseudohypertrophy of the muscles was absent. Sensation was intact to all modalities. Serum CPK and LDH were moderately increased.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗