412
Views
8
CrossRef citations to date
0
Altmetric
Editorials

CPT1A: the future of heart disease detection and personalized medicine?

, , &
Pages 9-12 | Published online: 18 Jan 2017

References

  • Bonnefont JP, Demaugre F, Prip‑Buus C et al. Carnitine palmitoyltransferase deficiencies. Mol. Genet. Metab. 68, 424–440 (1999).
  • McGarry JD, Brown NF. The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis. Eur. J. Biochem. 244, 1–14 (1997).
  • Bonnefont JP, Djouadi F, Prip‑Buus C, Gobin S, Munnich A, Bastin J. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol. Aspects Med. 25, 495–520 (2004).
  • Borch L, Lund AM, Wibrand F et al. Normal levels of plasma free carnitine and acylcarnitines in follow‑up samples from a presymptomatic case of carnitine palmitoyl transferase 1 (CPT1) deficiency detected through newborn screening in Denmark. JIMD Rep. 3, 11–15 (2012).
  • Sim KG, Wiley V, Carpenter K, Wilcken B. Carnitine palmitoyltransferase i deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile. J. Inherit. Metab. Dis. 24, 51–59 (2001).
  • Bennett MJ, Boriack RL, Narayan S, Rutledge SL, Raff ML. Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency. Mol. Genet. Metab. 82, 59–63 (2004).
  • Rajakumar C, Ban MR, Cao H, Young TK, Bjerregaard P, Hegele RA. Carnitine palmitoyltransferase IA polymorphism p479l is common in greenland inuit and is associated with elevated plasma apolipoprotein A‑I. J. Lipid Res. 50, 1223–1228 (2009).
  • Lemas DJ, Wiener HW, O’Brien DM et al. Genetic polymorphisms in carnitine palmitoyltransferase 1a gene are associated with variation in body composition and fasting lipid traits in Yup’ik Eskimos. J. Lipid Res. 53, 175–184 (2012).
  • Robitaille J, Houde A, Lemieux S, Pérusse L, Gaudet D, Vohl MC. Variants within the muscle and liver isoforms of the carnitine palmitoyltransferase I (CPT1) gene interact with fat intake to modulate indices of obesity in French–Canadians. J. Mol. Med. (Berl.) 85, 129–137 (2007).
  • Tripodi G, Modica R, Stella A, Bigatti G, Bianchi G, Stella P. Haplotype analysis of carnitine transporters and left ventricular mass in human essential hypertension. J. Ren. Nutr. 15, 2–7 (2005).
  • Voruganti VS, Higgins PB, Ebbesson SO et al. Variants in CPT1A, FADS1, and FADS2 are associated with higher levels of estimated plasma and erythrocyte delta‑5 desaturases in Alaskan Eskimos. Front. Genet. 3, 86 (2012).
  • Hirota Y, Ohara T, Zenibayashi M et al. Lack of association of CPT1A polymorphisms or haplotypes on hepatic lipid content or insulin resistance in Japanese individuals with Type 2 diabetes mellitus. Metabolism 56, 656–661 (2007).
  • Teslovich TM, Musunuru K, Smith AV et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466, 707–713 (2010).
  • Marian AJ. Elements of ‘missing heritability’. Curr. Opin. Cardiol. 27, 197–201 (2012).
  • Zaina S, Lund G. Epigenetics: a tool to understand diet‑related cardiovascular risk? J. Nutrigenet. Nutrigenomics 4, 261–274 (2011).
  • Irvin MR, Kabagambe EK, Tiwari HK et al. Apolipoprotein E polymorphisms and postprandial triglyceridemia before and after fenofibrate treatment in the Genetics of Lipid Lowering and Diet Network (GOLDN)Study. Circ. Cardiovasc. Genet. 3, 462–467 (2010).
  • Sandoval J, Heyn H, Moran S et al. Validation of a DNA methylation microarray for 450,000 CpG sites in the human genome. Epigenetics 6, 692–702 (2011).
  • Adalsteinsson BT, Gudnason H, Aspelund T et al. Heterogeneity in white blood cells has potential to confound DNA methylation measurements. PLoS ONE 7, e46705 (2012).
  • Bouwens M, Afman LA, Muller M. Activation of peroxisome proliferator‑activated receptor alpha in human peripheral blood mononuclear cells reveals an individual gene expression profile response. BMC Genomics 9, 262 (2008).
  • Chinetti G, Fruchart JC, Staels B. Peroxisome proliferator‑activated receptors (PPARs): nuclear receptors at the crossroads between lipid metabolism and inflammation. Inflamm. Res. 49, 497–505 (2000).
  • Aslibekyan S, Irvin MR, Sha J et al. CPT1A methylation is a novel epigenetic marker of cardiovascular risk. Presented at: American Heart Association Emerging Science Series. American Heart Association, Dallas, TX, USA, 18 June 2013.
  • Hidalgo B, Irvin MR, Sha J et al. Epigenome‑wide association study of fasting measures of glucose, insulin, and HOMA‑IR in GOLDN. Diabetes doi:10.2337/db13‑1100 (2013) (epub ahead of print).

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.