Journal
LIPIDS
Volume 51, Issue 2, Pages 189-192Publisher
WILEY
DOI: 10.1007/s11745-015-4109-6
Keywords
Lipid biochemistry; General area, HDL; Lipoproteins, LDL; Lipoproteins
Funding
- SUM Grant [KNW-2-021/10]
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Fragile X syndrome (FXS) is the most common form of familial mental retardation and one of the leading known causes of autism. The mutation responsible for FXS is a large expansion of the CGG repeats in the promoter region of the FMR1 gene resulting in the transcriptional silencing of the gene in the pathophysiology of Fragile X syndrome was hypothesized. 23 male patients affected by Fragile X syndrome (full mutation in the FMR1 gene) and 24 controls were included in the study. The serum levels of HDL-C were lower in FXS patients (p < 0.001). The serum levels triacylglycerols were higher in FXS patients (p = 0.007) Further study involving larger samples are necessary to confirm the results and define the health implications for abnormal lipid levels in FXS patients.
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