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Lipid Metabolism
Team
- Dr. Núria Casals Farré
- Miss. Adriana Sierra
Hernández
- Miss. Patricia Carrasco
Rodríguez
- Miss. Esther Gratacós Batlle
Research projects
- Project 1: “Identification of the function of the new isoenzyme carnitina
palmitoil transferasa (CPTI-C), seen exclusively in the brain, and its effect
on appetite control”.
Funding body: Ministry of Education and Science (Project SAF2004-06843-C03-02).
Collaborating entities: Universitat Internacional de Catalunya
Project duration: 2005-2007
Chief researcher: Dr. Núria Casals
Molecular, cellular and functional study of a new isoenzyme carnitina palmitoil
transferasa (CPT1c) that is found exclusively in the brain. Our group has
determined the cellular and sub-cellular location of the protein and is
currently studying the metabolic route it follows as well as the role played by
the hypothalamic enzyme in appetite control through studies of neurone cultures
and through the development of knockout mice.
We are also analysing the effect of CPT1c on neuronal plasticity phenomena.
- Project 2: “Pathophysiology of Obesity and Nutrition”
Funding body: Instituto de Salud Carlos III; Ministry of Health. Project CIBER
Collaborating entities: Universidad de Barcelona, Universitat Internacional de
Catalunya
Project duration: 01.01.2007-31.12.2011
Chief researcher: Dr. Fausto García Hegardt (UB)
Coordinating researcher at the UIC: Doctor Núria Casals
Study of the involvement of the CPT1 (CPT1a, CPT1b and CPT1c) enzymes on the
resistance to insulin in muscles and the liver, on the production of pancreatic
insulin, and on hunger control at an hypothalamic level.
- Project 3: “Network of Hereditary Metabolic Disorders (REDEMETH). Hereditary
metabolic disorders. Advances in clinical, biochemical and genetic diagnosis.
Molecular bases and ethyopathogenesis. New therapeutic approximations.
Epidemiological studies”
Funding body: Instituto de Salud Carlos III
Collaborating entities: Universidad de Barcelona, Universitat Internacional de
Catalunya, Universidad de Zaragoza
Project duration: 2003-2006
Research manager: Fausto García Hegardt (Node 10)
Coordinating researcher at the UIC: Doctor Núria Casals
Molecular analysis of the mutations that cause genetic metabolic deficiencies
in ketone bodies, specifically the deficiency of HMG-CoA lyase and that of
mitocondrial HMG-CoA synthase, present in newborns. Monitoring of the most
commonly occurring mutations. Study of the mutations which affect the
three-dimensional structure of the enzyme and its catalytic capacity.
Publications
- ALEDO, R.; ZSCHOCKE, J.; PIE, J.; MIR, C.; FIESEL,
S.; MAYATEPEK, E.; HOFFMANN, GF.; CASALS, N. y HEGARDT, FG. (2001)
The genetic basis of mitochondrial HMG-CoA synthase deficiency Hum Genet 109,
19-23
- ZSCHOCKE,
J.; PENZIEN, JM.; BIELEN, R.; CASALS, N.; ALEDO, R.; PIE, J.; HOFFMANN, GF.; HEGARDT,
FG; MAYATEPEK, E. (2002) Diagnosing mitochondrial HMG-CoA synthase deficiency J
Pediatr 140, 778-780
- MORILLAS,
M.; GOMEZ-PUERTAS, P.; BENTEBIBEL, A.; SELLES, E.; CASALS, N.; VALENCIA, A.; HEGARDT,
FG; ASINS, G.; SERRA, D. (2003) Identification of conserved amino acid residues
in rat liver carnitine palmitoyltransferase I critical for malonyl-CoA
inhibition. Mutation of methionine 593 abolishes malonyl-CoA inhibition. J Biol
Chem 278, 9058-9063.
- MIR, C.;
CLOTET, J.; ALEDO, R.; DURANY, N.; ARGEMÍ, J.; CERVÓS-NAVARRO, J.; CASALS, N.
(2003) CDP-choline prevents glutamate-mediated cell death in cerebellar granule
neurons. J Mol Neurosci 20, 53-59.
- CASALS,
N., P GOMEZ-PUERTAS, P.;, PIE, J.; MIR, C.; ROCA, R.; MENAO, S.; ALEDO, R.; CLOTET,
B PUISAC, B.; SERRA, D.; ASINS, G.; TILL, J.; ELIAS-JONES, AC.; CRESTO, JC.; CHAMOLES,
NA.; ABDENUR, JE.; MAYATEPEK, E.; BESLEY, G.; VALENCIA, A.; y HEGARDT, FG. (2003)
Structural (beta-alfa)8 TIM barrel model of 3-hydroxy-3-methylglutaril coenzyme
A lyase. Mutation of Ser75, Ser201 and Asp204 impairs the catalytic activity. J
Biol Chem, 278, 29016-29023
- PIE, J.; CASALS,
N.; PUISAC, B. y HEGARDT, FG. (2004) Molecular basis of 3-hydroxy
3-methylglutaric aciduria Journal of Physiology and Biochemistry 59, 311-322
- PUISAC,
B.; LOPEZ-VIÑAS, E.; Moreno, S., MIR, C.; Perez-Cerda, C., Menao, S., LLUCH, D.;
PIE, A.; GOMEZ-PUERTAS, P.; CASALS, N.; UGARTE, M.; HEGARDT, FG. y PIE, J.
(2005) Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene
produces the loss of beta sheets 1 nad 2 in the recently proposed (beta-alpha)8
TIM barrel model of HL Biophysical Chemistry 115, 241-245.
- MIR, C.;
LOPEZ-VIÑAS, E.; ALEDO, R., PUISAC, B; RIZZO, C., DIONISI-VICI, C.; DEODATO,
F.; PIE, J.; GOMEZ-PUERTAS, P.; HEGARDT, FG. y CASALS, N. (2006). A single
residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by
occluding the substrate channel in the 3D structural model of HMG-CoA lyase. Journal
of Inherited Metabolic Disease 29, 64-70.
- ALEDO, R.; MIR, C.; DALTON, RN.; TURNER, C.; PIE, J.; HEGARDT, FG.; CASALS,
N y CHAMPION, MP.; (2006). Refining the diagnosis of mitochondrial HMG-CoA
synthase deficiency Journal of Inherited Metabolic Disease 29, 207-211