Submitted on April 29, 2006
Accepted on May 30, 2006
Tricarboxylic Acid Cycle Dysfunction as a Cause of Human Diseases
and Tumour Formation
Jean-Jacques Briere1, Judith Favier2, Anne-Paule Gimenez-Roqueplo3, and Pierre Rustin1*
1 INSERM U676, Hopital R Debre, Paris, France
2 INSERM U772, College de France, Paris, France
3 Departement de Genetique, Hopital Europeen Georges Pompidou, France
* To whom correspondence should be addressed. E-mail: rustin{at}rdebre.inserm.fr.
A renewed interest in tricarboxylic acid cycle enzymopathies has resulted from the report that, beside devastating encephalopathies, these can result in various types of tumours in human. We first review the major features of the cycle which 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 tumour/cancer formation in the cases of mutations affecting fumarase or succinate dehydrogenase genes.
