Tricarboxylic acid cycle dysfunction as a cause of human diseases and tumor formation

被引：71

作者：

Briere, Jean-Jacques

Favier, Judith

Gimenez-Roqueplo, Anne-Paule

Rustin, Pierre

机构：

[1] Hop Robert Debre, INSERM, U676, F-75019 Paris, France

[2] Univ Paris 05, APHP, Hop Europeen Georges Pompidou, Dept Genet, Paris, France

[3] Coll France, INSERM, Unite 722, F-75231 Paris, France

来源：

AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY | 2006年 / 291卷 / 06期

关键词：

mitochondria; fumarase; succinate dehydrogenase; cancer; encephalopathy;

D O I：

10.1152/ajpcell.00216.2006

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

A renewed interest in tricarboxylic acid cycle enzymopathies has resulted from the report that, in addition to devastating encephalopathies, these can result in various types of tumors in human. We first review the major features of the cycle that may underlie this surprising variety of clinical features. After discussing the rare cases of encephalopathies associated with specific deficiencies of some of the tricarboxylic acid cycle enzyme, we finally examine the mechanism possibly causing tumor/cancer formation in the cases of mutations affecting fumarase or succinate dehydrogenase genes.

引用

页码：C1114 / C1120

页数：7

共 67 条

[1] INTRACELLULAR-DISTRIBUTION OF FUMARASE IN VARIOUS ANIMALS [J].

AKIBA, T ;

HIRAGA, K ;

TUBOI, S .

JOURNAL OF BIOCHEMISTRY, 1984, 96 (01) :189-195

[2] Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer [J].

Alam, NA ;

Olpin, S ;

Leigh, IM .

BRITISH JOURNAL OF DERMATOLOGY, 2005, 153 (01) :11-17

[3] Genetic testing in pheochromocytoma or functional paraganglioma [J].

Amar, L ;

Bertherat, J ;

Baudin, E ;

Ajzenberg, C ;

Bressac-de Paillerets, B ;

Chabre, O ;

Chamontin, B ;

Delemer, B ;

Giraud, S ;

Murat, A ;

Niccoli-Sire, P ;

Richard, SP ;

Rohmer, V ;

Sadoul, JL ;

Strompf, L ;

Schlumberger, M ;

Bertagna, X ;

Plouin, PF ;

Jeunemaitre, X ;

Gimenez-Roqueplo, AP .

JOURNAL OF CLINICAL ONCOLOGY, 2005, 23 (34) :8812-8818

[4] Hereditary paraganglioma target's diverse paraganglia [J].

Baysal, BE .

JOURNAL OF MEDICAL GENETICS, 2002, 39 (09) :617-622

[5] Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes [J].

Benn, DE ;

Gimenez-Roqueplo, AP ;

Reilly, JR ;

Bertherat, J ;

Burgess, J ;

Byth, K ;

Croxson, M ;

Dahia, PLM ;

Elston, M ;

Gimm, O ;

Henley, D ;

Herman, P ;

Murday, V ;

Niccoli-Sire, P ;

Pasieka, JL ;

Rohmer, V ;

Tucker, K ;

Jeunemaitre, X ;

Marsh, DJ ;

Plouin, PF ;

Robinson, BG .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2006, 91 (03) :827-836

[6]

Birch-Machin MA, 2000, ANN NEUROL, V48, P330, DOI 10.1002/1531-8249(200009)48:3<330::AID-ANA7>3.0.CO

[7]

2-A

[8] MUTATION OF A NUCLEAR SUCCINATE-DEHYDROGENASE GENE RESULTS IN MITOCHONDRIAL RESPIRATORY-CHAIN DEFICIENCY [J].

BOURGERON, T ;

RUSTIN, P ;

CHRETIEN, D ;

BIRCHMACHIN, M ;

BOURGEOIS, M ;

VIEGASPEQUIGNOT, E ;

MUNNICH, A ;

ROTIG, A .

NATURE GENETICS, 1995, 11 (02) :144-149

[9] MUTATION OF THE FUMARASE GENE IN 2 SIBLINGS WITH PROGRESSIVE ENCEPHALOPATHY AND FUMARASE DEFICIENCY [J].

BOURGERON, T ;

CHRETIEN, D ;

POGGIBACH, J ;

DOONAN, S ;

RABIER, D ;

LETOUZE, P ;

MUNNICH, A ;

ROTIG, A ;

LANDRIEU, P ;

RUSTIN, P .

JOURNAL OF CLINICAL INVESTIGATION, 1994, 93 (06) :2514-2518

[10] When hypoxia signalling meets the ubiquitin-proteasomal pathway, new targets for cancer therapy [J].

Brahimi-Horn, C ;

Pouysségur, J .

CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY, 2005, 53 (02) :115-123

← 1 2 3 4 5 6 7 →