PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders.

Abstract:

:Enzyme defects in the mitochondrial fatty acid oxidation (FAO) are a large family of inherited metabolic disease well characterized clinically and genetically, but for which pharmacological strategies remain limited. It is now well established that regulation of genes involved in mitochondrial FAO is under control of the PPAR (peroxisome proliferator activated receptor) signalling pathway, and this led us to test a possible pharmacological correction of FAO disorders by fibrates and other PPAR activators. This review presents the basic data supporting our initial hypothesis, summarizes the results obtained in cells from patients with CPT II (carnitine palmitoyltransferase II) or VLCAD (very long-chain acyl-CoA dehydrogenase) deficiency, and discusses the perspectives and limits of this approach for therapy of these disorders.

journal_name

J Inherit Metab Dis

authors

Djouadi F,Bastin J

doi

10.1007/s10545-008-0844-7

subject

Has Abstract

pub_date

2008-04-01 00:00:00

pages

217-25

issue

2

eissn

0141-8955

issn

1573-2665

journal_volume

31

pub_type

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