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Published on: September 6, 2017
The polymorphism analysis for CD36 among platelet donors
Qilu Lyu1,2, Yuwei Lin1,2,3, Yiming Pan1,2
1Clinical Transfusion Research Center, Institute of Blood Transfusion, Chinese Academy of Medical Sciences and Peking Union Medical College, Chengdu, 610052, Sichuan, China.
CD36 deficiency involves altered CD36 gene and protein levels. This study identifies prevalent mutations and links RNA alterations to type II deficiency, suggesting soluble CD36 (sCD36) as a potential biomarker.
Area of Science:
- Genetics and Molecular Biology
- Immunology
- Biochemistry
Background:
- CD36 deficiency, characterized by defects in CD36 on platelets and/or monocytes, has incompletely understood correlations between molecular and protein expression levels.
- Investigating these correlations is crucial for understanding the pathophysiology of CD36 deficiency.
Purpose of the Study:
- To determine the polymorphisms of the CD36 gene, its RNA levels, and CD36 protein expression on platelets and in plasma.
- To correlate genetic variations with molecular and protein expression changes in CD36 deficiency.
Main Methods:
- Sanger sequencing for CD36 gene polymorphisms.
- Bioinformatic analysis using HotMuSiC, CUPSAT, SAAFEC-SEQ, and FoldX.
- Quantitative PCR (qPCR), flow cytometry, and ELISA for RNA and protein level analysis.
Main Results:
- Identified c.1228_1239delATTGTGCCTATT as the most frequent mutation (allele frequency 0.0072).
- Confirmed 5 mutations in the extracellular domain, with four (c.284T>C, c.512A>G, c.572C>T, c.869T>C) predicted to deleteriously impact CD36 protein stability.
- Observed significantly lower mean fluorescence intensity (MFI) of platelet CD36 expression in mutation carriers and deficient individuals.
- Found significantly lower soluble CD36 (sCD36) levels in type II deficiency and lower CD36 RNA levels in platelets of type II individuals compared to controls.
Conclusions:
- RNA level alterations may underlie type II CD36 deficiency.
- The prevalent mutation c.1228_1239delATTGTGCCTATT was identified in the Kunming cohort.
- Soluble CD36 (sCD36) shows potential as a biomarker for assessing immune reaction risk in CD36-deficient individuals, warranting further investigation.
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