What question did this study set out to answer?

This research aims to investigate the relationship between mutations in the FAT/CD36 gene and the impaired uptake of long-chain fatty acids in the heart.

May 1, 2001Journal of Lipid Research156 citationsOpen Access

Defect in human myocardial long-chain fatty acid uptake is caused by FAT/CD36 mutations

TTTakao Tanaka TNTomoaki Nakata TOTakanori Oka

Key Points

This research aims to investigate the relationship between mutations in the FAT/CD36 gene and the impaired uptake of long-chain fatty acids in the heart.
Analyzed mutations and protein expression of the FAT/CD36 gene in 47 patients.
Used radiolabeled LCFA analogues to evaluate myocardial LCFA metabolism.
Determined the absence of FAT/CD36 protein on platelet and monocyte membranes.
All patients exhibited two mutations in the FAT/CD36 gene.
No FAT/CD36 protein expression was detected on membranes.
Results indicate a direct link between FAT/CD36 mutations and lack of LCFA accumulation in the heart.

Abstract

Because of the importance of long-chain fatty acids (LCFAs) as a myocardial energy substrate, myocardial LCFA metabolism has been of particular interest for the understanding of cardiac pathophysiology. Recently, by using radiolabeled LCFA analogues, myocardial LCFA metabolism has been clinically evaluated, which revealed a total defect of myocardial LCFA accumulation in a small number of subjects. The mechanism for the cellular LCFA uptake process is still disputable, but recent results suggest that fatty acid translocase (FAT)/CD36 is a transporter in the heart. In the present study, we analyzed mutations and protein expression of the FAT/CD36 gene in 47 patients who showed total lack of the accumulation of a radiolabeled LCFA analogue in the heart. All the patients carried two mutations in the FAT/CD36 gene, and expression of the FAT/CD36 protein was not detected on either platelet or monocyte membranes. Our results showed the link between mutations of the FAT/CD36 gene and a defect in the accumulation of LCFAs in the human heart. —Tanaka, T., T. Nakata, T. Oka, T. Ogawa, F. Okamoto, Y. Kusaka, K. Sohmiya, K. Shimamoto, and K. Itakura. Defect in human myocardial long-chain fatty acid uptake is caused by FAT/CD36 mutations. J. Lipid Res. 2001. 42: 751–759.

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