Scintigraphic evidence for a specific long-chain fatty acid transporting system deficit and the genetic background in a patient with hypertrophic cardiomyopathy
T. Nakata et al., Scintigraphic evidence for a specific long-chain fatty acid transporting system deficit and the genetic background in a patient with hypertrophic cardiomyopathy, JPN CIRC J, 63(4), 1999, pp. 319-322
Citations number
23
Categorie Soggetti
Cardiovascular & Respiratory Systems","Cardiovascular & Hematology Research
The mechanism of cardiac uptake of long-chain free fatty acids has not been
fully determined. We encountered a hypertrophic cardiomyopathy patient who
showed a lack of cardiac uptake of 2 different types of long-chain fatty a
cid analogues on the scintigraphic images, Flow cytometric analysis reveale
d no platelet or monocyte CD36 molecule expression (type I CD36 deficiency)
and his CD36 gene showed homozygous mutation for C-478 to T substitution,
leading to an abnormal CD36 amino acid sequence. These findings strongly su
ggest that a specific transporting system rather than a simple diffusion is
commonly involved in the cardiac uptake of long-chain free fatty acids in
humans, and that the CD36 protein is the most likely candidate for the spec
ific transporter and to explain scintigraphic defects on fatty acid imaging
.