title: Low Levels of HDL in Fragile X Syndrome Patients.
abstract: 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.
authors.affiliation: Department of Molecular Biology and Genetics, School of Medicine in Katowice ul., Medical University of Silesia, ul. Medyków 18, 40-752, Katowice, Poland. mlisik@sum.edu.pl.
authors.forename: Małgorzata Z
authors.initials: MZ
authors.lastname: Lisik
authors.affiliation: Department of Molecular Biology and Genetics, School of Medicine in Katowice ul., Medical University of Silesia, ul. Medyków 18, 40-752, Katowice, Poland.
authors.forename: Ewa
authors.initials: E
authors.lastname: Gutmajster
authors.affiliation: Department of Molecular Biology and Genetics, School of Medicine in Katowice ul., Medical University of Silesia, ul. Medyków 18, 40-752, Katowice, Poland.
authors.forename: Aleksander L
authors.initials: AL
authors.lastname: Sieroń
mesh_terms: D000328:Adult; D002784:Cholesterol / Q000097:blood; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000097:blood / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008075:Lipoproteins, HDL / Q000097:blood* / Q000235:genetics; D008077:Lipoproteins, LDL / Q000097:blood* / Q000235:genetics; D008297:Male; D014280:Triglycerides / Q000097:blood
chemical_list: D002784:Cholesterol; D051860:Fragile X Messenger Ribonucleoprotein 1; D008075:Lipoproteins, HDL; D008077:Lipoproteins, LDL; D014280:Triglycerides; C497683:FMR1 protein, human
keywords: General area, HDL; Lipid biochemistry; Lipoproteins; Lipoproteins, LDL