PYRUVATE-DEHYDROGENASE, LIPOAMIDE DEHYDROGENASE AND CITRATE SYNTHASE ACTIVITY IN FIBROBLASTS FROM PATIENTS WITH FRIEDREICH AND CHARLEVOIX-SAGUENAY ATAXIA

被引：9

作者：

MELANCON, SB ^{[1
]}

POTIER, M ^{[1
]}

DALLAIRE, L ^{[1
]}

ROLLIN, P ^{[1
]}

FONTAINE, G ^{[1
]}

GRENIER, B ^{[1
]}

机构：

[1] UNIV MONTREAL,HOP ST JUSTINE,PEDIAT RECH CTR,MONTREAL H3T 1C5,QUEBEC,CANADA

来源：

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES | 1979年 / 6卷 / 02期

关键词：

D O I：

10.1017/S0317167100119717

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The activity of lipoamide dehydrogenase and two closely related enzymes was studied simultaneously in early, mid, and late passage fibroblast cultures. Friedreich's ataxia fibroblasts tended to lose pyruvate dehydrogenase and citrate synthase activities, while lipoamide dehydrogenase activity remained constant with aging of the cells. Mean pyruvate dehydrogenase activity was lower over-all in fibroblasts from ataxies. Mean citrate synthase activity was higher in ataxie fibroblasts. Present tissue culture media do not represent the best conditions in which to reproduce cofactor binding defects such as those found in other genetic diseases with structural enzyme mutations. © 1979, Canadian Neurological Sciences Federation. All rights reserved.

引用

页码：241 / 242

页数：2

共 9 条

[1] ABNORMALITY OF A THIAMINE-REQUIRING ENZYME IN PATIENTS WITH WERNICKE-KORSAKOFF SYNDROME [J].

BLASS, JP ;

GIBSON, GE .

NEW ENGLAND JOURNAL OF MEDICINE, 1977, 297 (25) :1367-1370

[2] INHERITED DEFECT AFFECTING TRICARBOXYLIC ACID CYCLE IN A PATIENT WITH CONGENITAL LACTIC ACIDOSIS [J].

BLASS, JP ;

SCHULMAN, JD ;

YOUNG, DS ;

HOM, E .

JOURNAL OF CLINICAL INVESTIGATION, 1972, 51 (07) :1845-&

[3] SERUM AND PLATELET LIPOAMIDE DEHYDROGENASE IN FRIEDREICHS ATAXIA [J].

FILLA, A ;

BUTTERWORTH, RF ;

GEOFFROY, G ;

LEMIEUX, B ;

BARBEAU, A .

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 1978, 5 (01) :111-114

[4]

LOWRY OH, 1951, J BIOL CHEM, V193, P265

[5] LIPOAMIDE DEHYDROGENASE IN CULTURED HUMAN-SKIN FIBROBLASTS [J].

MELANCON, SB ;

DALLAIRE, L ;

POTIER, M .

CLINICA CHIMICA ACTA, 1978, 87 (01) :29-34

[6]

MELANCON SB, 1977, PEDIATR RES, V11, P460, DOI 10.1203/00006450-197704000-00541

[7] LIPOAMIDE DEHYDROGENASE IN FRIEDREICHS ATAXIA FIBROBLASTS [J].

MELANCON, SB ;

POTIER, M ;

DALLAIRE, L ;

FONTAINE, G ;

GRENIER, B ;

LEMIEUX, B ;

GEOFFROY, G ;

BARBEAU, A .

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 1978, 5 (01) :115-118

[8]

MELANCON SB, 1972, P SOC EXP BIOL MED, V141, P391

[9] MEASUREMENT OF CITRATE SYNTHASE ACTIVITY IN HUMAN FIBROBLASTS [J].

SCHULMAN, JD ;

BLASS, JP .

CLINICA CHIMICA ACTA, 1971, 33 (02) :467-&

← 1 →