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Low Levels of HDL in Fragile X Syndrome Patients
Author(s) -
Lisik Małgorzata Z.,
Gutmajster Ewa,
Sieroń Aleksander L.
Publication year - 2016
Publication title -
lipids
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.601
H-Index - 120
eISSN - 1558-9307
pISSN - 0024-4201
DOI - 10.1007/s11745-015-4109-6
Subject(s) - fragile x syndrome , fmr1 , autism , pathophysiology , mutation , gene silencing , medicine , fragile x , gene , genetics , endocrinology , biology , psychiatry
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.