December 27, 2013
The group of Dr. Antonia Ribes has received the first prize for the best oral communication recently presented at the 12th International Congress of Inborn Errors of Metabolism (ICIEM), Barcelona . This paper was presented by Federic Tort .
In 2011, same group identified mutations in the gene NFU1 , the first genetic defect associated with a deficiency in the biosynthesis of lipoic acid in humans. This work opened the door to a new field of research in the field of rare diseases , and today , we have identified more than 30 patients with mutations in NFU1 and found three new genes ( BOLA3 , LIAS , IBA57 ) associated with the biosynthesis oh this acid . In this study, we have identified, for the first time, a specific deficiency in the transport of lipoic acid to their target proteins . This deficiency is due to mutations in the gene LIPT1 . The results obtained are very important for both diagnosis and the understanding of the molecular mechanisms involved in the metabolism of lipoic acid, as well as for the future design of new therapeutic strategies.
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Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.
Tort F, Ferrer-Cortès X, Thió M, Navarro-Sastre A, Matalonga L, Quintana E, Bujan N, Arias A, García-Villoria J, Acquaviva C, Vianey-Saban C, Artuch R, García-Cazorla A, Briones P, Ribes A.
Hum Mol Genet. 2013 Nov 28. [Epub ahead of print]
PMID: 24256811 [PubMed - as supplied by publisher