Low Levels of HDL in Fragile X Syndrome Patients

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 th...

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Veröffentlicht in:	Lipids 2016-02, Vol.51 (2), p.189-192
Hauptverfasser:	Lisik, Małgorzata Z, Gutmajster, Ewa, Sieroń, Aleksander L
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult autism Biomedical and Life Sciences blood serum Cholesterol - blood Fragile X Mental Retardation Protein - genetics Fragile X Syndrome - blood Fragile X Syndrome - genetics Fragile X Syndrome - pathology gene silencing General area, HDL genes high density lipoprotein Humans Life Sciences Lipid biochemistry Lipidology Lipoproteins Lipoproteins, HDL - blood Lipoproteins, HDL - genetics Lipoproteins, LDL Lipoproteins, LDL - blood Lipoproteins, LDL - genetics Male males Medical Biochemistry Medicinal Chemistry Microbial Genetics and Genomics Mutation Neurochemistry Nutrition Original Original Article pathophysiology patients promoter regions transcription (genetics) triacylglycerols Triglycerides - blood
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Zusammenfassung:	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
ISSN:	0024-4201 1558-9307
DOI:	10.1007/s11745-015-4109-6