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The following aspects have been investigated in 10 patients affected by Huntington's disease (HD):
- •- extensive haematological investigations;
- •- red cell enzyme activities and level of the most important glycolytic intermediate compounds;
- •- protein, lipid and carbohydrate composition of the erythrocyte membrane and membrane polarity;
- •- effects of in vitro aging on red cell membranes.
Lack of 4.5 protein band in SDS-PAGE and 14-fold decrease in membrane-bound catalase were found in the in vitro aged red cells from the 10 HD patients examined. Na+ + K+ ATPase was slightly higher than normal in all the patients.
Red cells from 5 out of 8 patients showed a decrease in reduced glutathione and phosphoenolpyruvate levels and/or an increase in hexokinase, glucose-6-phosphate dehydrogenase, pyruvate kinase and glutathione reductase activities.
The haematological investigations, the protein lipid and carbohydrate composition of the fresh red cells, the membrane polypeptide aggregates and the membrane polarity evaluated by microspectrofluorometric analysis were normal.
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- Increased membrane binding of erythrocyte catalase in hereditary spherocytosis and in metabolically stressed normal cells.Blood. 1977; 49: 113-123
- Membrane polypeptide aggregates in glucose-6-phosphate dehydrogenase-deficient and “in vitro” aged red blood cells.J. Lab. clin. Med. 1978; 91: 321-327
- Red Cell Metabolism — A Manual of Biochemical Methods.in: Grune and Stratton, New York, NY1975
- Glutathione deficiency, pyroglutamic acidemia and aminoacid transport.New Engl. J. Med. 1976; 295: 441-442
- Comparison of reconstituted membranes from normal individuals and those with Huntington's disease.Adv. Neurol. 1979; 23: 397-408
- Electron spin resonance study of membrane protein alterations in erythrocytes in Huntington's disease.Nature (Lond.). 1977; 267: 453-455
- Biophysical studies of erythrocyte membrane in Huntington's disease.in: Sikes B. Agris P. Loeppky R.N. Biomolecular Structure and Function. Academic Press, New York, NY1978: 101-107
- Increased sodium plus potassium adenosine triphosphatase activity in erythrocyte membranes in Huntington's disease.Ann. Neurol. 1978; 4: 60-62
- Electron spin resonance, hematological and deformability studies of erythrocytes from patients with Huntington's disease.Biochim. biophys. Acta. 1979; 551: 452-458
- Analysis of glycoproteins.in: Biochem. Soc. Symp.40. 1974: 3-16
- Digital microspectrofluorometry by multichannel scaling and single photon detection.Histochem. J. 1974; 6: 279-299
- Practical Haematology.in: Churchill, London1970
- The preparation and chemical characterization of haemoglobin-free ghosts of human erythrocytes.Arch. Biochem. Biophys. 1963; 100: 119-130
- Erythrocyte membrane-bound enzymes ATPase, phosphatase and adenylate kinase in human, bovine and porcine erythrocytes.Biochim. biophys. Acta. 1972; 255: 239-250
- Alterations in 3H-GABA binding in Huntington's chorea.Life Sci. 1977; 21: 747-754
- Protein measurement with the Folin phenol reagent.J. biol. Chem. 1951; 193: 265-275
- Isolation and partial characterization of the high molecular weight red cell membrane protein complex normally removed by the spleen.Blood. 1977; 50: 625-641
- Scanning electron microscopic studies of erythrocytes in Huntington's disease.Biochem. biophys. Res. Commun. 1977; 78: 560-564
- Fibroblast cultures in Huntington's disease.New Engl. J. Med. 1973; 288: 856-857
- The micromethod for determination of cholesterol, cholesteryl esters and phospholipids.Acta med. Okayama. 1974; 28: 403-410
- Studies of the fluorescence of fibroblasts from Huntington's disease — Evidence of a membrane abnormality.New Engl. J. Med. 1979; 300: 678
- Fluorescence studies of fibroblasts, lymphocytes and erythrocytes in Huntington's disease.Ann. Neurol. 1979; 6: 149
- Hirs C.H.V. Timasheff Methods in Enzymology. Academic Press, New York, NY1972: 244
- Alterations in dopaminergic receptors in Huntington's disease.Life Sci. 1977; 21: 1123-1128
- The membrane abnormality of the red cell in paroxysmal nocturnal haemoglobinuria.Nature New Biol. 1973; 245: 273-276
- Erythrocyte spectrofluorometric abnormalities in Duchenne patients and carriers — A new approach to carrier detection.Acta neurol. scand. 1979; 59: 262-269
- Partition of catalase and its peroxidase activities in human red cell membrane — Effect of ATP depletion.Biochim. biophys. Acta. 1977; 470: 290-302
- The organization of proteins in the human red blood cell membrane — A review.J. Cell Biol. 1974; 62: 1-19
- Effects of sulfhydryl compounds on abnormal red cell pyruvate kinase.Brit. J. Haemat. 1976; 32: 373-385
- Hereditary pyruvate kinase deficiency — Role of the abnormal enzyme in red cell pathophysiology.Brit. J. Haemat. 1978; 40: 551-562
- A new mutant erythrocyte glucose phosphate isomerase (GPI) associated with GSH abnormality.Amer. J. Haemat. 1978; 5: 11-23
- Membrane abnormalities of pyruvate kinase deficient red cells.Brit. J. Haemat. 1979; 42: 101-108
Accepted: March 13, 1980
Received in revised form: March 3, 1980
Received: December 20, 1979
© 1980 Published by Elsevier Inc.