A novel mutation in CPT1A resulting in hepatic CPT deficiency

JIMD Reports

Volumn 6, Issue , 2012, Pages 7-14

  Fontaine, Monique ^a   Dessein, Anne Frédérique ^a   Douillard, Claire ^a   Dobbelaere, Dries ^a   Brivet, Michèle ^b   Boutron, Audrey ^b   Zater, Mokhtar ^b   Mention Mulliez, Karine ^a   Martin Ponthieu, Annie ^a   Vianey Saban, Christine ^c   Briand, Gilbert ^a,d   Porchet, Nicole ^a   Vamecq, Joseph ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b BICÊTRE HOSPITAL   (France)

^c HOSPICES CIVILS DE LYON   (France)

^d UNIV LILLE   (France)

Author keywords

Carnitine level; CPT1 Activity; Fatty acid oxidation; Free carnitine; Mitochondrial fatty acid oxidation

Indexed keywords

EID: 84883399133     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2011_94     Document Type: Chapter

References (28)

1. Bennett MJ, Narayan SB, Santani AB (2005) Carnitine palmitoyltransferase 1A. In: Pagon RA, Bird TD, Dolan CR, Stephens K (eds) Gene reviews [Internet]. University of Washington, Seattle, WA, USA [updated 2010]
2. Bonnefont JP, Djouadi F, Prip-Buus C, Gobin S, Munnich A, Bastin J (2004) Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspect Med 25:495–520
3. Britton CH, Mackey DW, Esser V et al (1997) Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I. Genomics 40:209–211
4. Brown NF, Mullur RS, Subramanian I et al (2001) Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme. J Lipid Res 42:1134–1142
5. Combet C, Jambon M, Deléage G, Geourjon C (2002) Geno3D: automatic comparative molecular modelling of protein. Bioinfor-matics 18:213–214
6. Cook GA, Mynatt RL, Kashfi K (1994) Yonetani-Theorell analysis of hepatic carnitine palmitoyltransferase-I inhibition indicates two distinct inhibitory binding sites. J Biol Chem 269:8803–8807
7. Demaugre F, Bonnefont JP, Mitchell G et al (1988) Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities. Pediatr Res 24:308–311
8. Dessein AF, Fontaine M, Dobbelaere D et al (2009) Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders. Clin Chim Acta 406:23–26
9. Esser V, Britton CH, Weis BC, Foster DW, McGarry JD (1993) Cloning, sequencing, and expression of a cDNA encoding rat liver carnitine palmitoyltransferase I. Direct evidence that a single polypeptide is involved in inhibitor interaction and catalytic function. J Biol Chem 268:5817–5822
10. Fontaine M, Porchet N, Largilliere C et al (1989) Biochemical contribution to diagnosis and study of a new case of D-glyceric acidemia/aciduria. Clin Chem 35:2148–2151
11. Fontaine M, Briand G, Vallée L et al (1996) Acylcarnitine removal in a patient with acyl-CoA beta-oxidation deficiency disorder: effect of L-carnitine therapy and starvation. Clin Chim Acta 252:109–122
12. Haworth JC, Demaugre F, Booth FA et al (1992) Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family. J Pediatr 121:553–557
13. Houten SM, Wanders RJ (2010) A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation. J Inherit Metab Dis 33:469–477. http://www.expasy.org/spdbv
14. Kashfi K, Cook GA (1999) Topology of hepatic mitochondrial carnitine palmitoyltransferase I. Adv Exp Med Biol 466:27–42
15. Morillas M, Gómez-Puertas P, Rubi BA et al (2002) Structural model of a malonyl-CoA-binding site of carnitine octanoyl-transferase and carnitine palmitoyltransferase I: mutational analysis of malonyl-CoA affinity domain. J Biol Chem 277:11473–11480
16. Morillas M, Gómez-Puertas P, Bentebibel A et al (2003) Identification of conserved amino acid residues in rat liver carnitine palmitoyltransferase 1 critical for malonyl-CoA-inhibition. Mutation of methionine 593 abolishes malonyl-CoA inhibition. J Biol Chem 278:9058–9063
17. Morillas M, López-Viñas E, Valencia A et al (2004) Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal. Biochem J 379:777–784
18. Murthy MS, Pande SV (1987) Malonyl-CoA binding site and the overt carnitine palmitoyltransferase activity reside on the opposite sides of the outer mitochondrial membrane. Proc Natl Acad Sci USA 84:378–382
19. Olpin SE, Allen J, Bonham JR et al (2001) Features of carnitine palmitoyltransferase type I deficiency. J Inherit Metab Dis 24:35–42
20. Price NT, van der Leij FR, Jackson VN et al (2002) A novel brain-expressed protein related to carnitine palmitoyltransferase 1. Genomics 80:433–442
21. Sierra AY, Gratacós E, Carrasco P et al (2008) CPT1c is localized in endoplasmic reticulum of neurons and has carnitine palmitoyltransferase activity. J Biol Chem 283:6878–6885
22. Vianey-Saban C, Mousson B, Bertrand C et al (1993) Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia. Eur J Pediatr 152:334–338
23. Vockley J (1994) The changing face of disorders of fatty acid oxidation. Mayo Clin Proc 69:249–257
24. Vockley J, Whiteman DA (2002) Defects of mitochondrial beta-oxidation: a growing group of disorders. Neuromuscul Disord 12:235–246
25. Wolfgang MJ, Lane MD (2011) Hypothalamic malonyl-CoA and CPT1c in the treatment of obesity. FEBS J 278:552–558
26. Wolfgang MJ, Kurama T, Dai Y et al (2006) The brain-specific carnitine palmitoyltransferase-1c regulates energy homeostasis. Proc Natl Acad Sci USA 103:7282–7287
27. Yamamoto S, Abe H, Kanazawa M et al (1994) Clinical, biochemical and molecular studies in fatty acid oxidation disorders (1): a Japanese case with carnitine palmitoyltransferase I deficiency presenting familial Reye-like episode. In: VI International congress inborn errors of metabolism, Milano, Italy, 27–31 May 1994
28. Yamazaki N, Shinohara Y, Shima A, Terada H (1995) High expression of a novel carnitine palmitoyltransferase I like protein in rat brown adipose tissue and heart: isolation and characterization of its cDNA clone. FEBS Lett 363:41–45