ArticlePloS one2017
New insights of altered lipid profile in Fragile X Syndrome.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 37 citations in OpenAlex.
- Myeloid Fmr1 deficiency in mice results in reduced serum cholesterol and altered bile pathway gene expression.PloS one · 2026Article
- Interaction between neuromuscular junction metabolic requirements in fragile X syndrome and glycogen storage disease models.Disease models & mechanisms · 2025Article
- Associations between plasma 24(S)-hydroxycholesterol and neuropsychological profile in fragile X syndrome.Journal of lipid research · 2025Article
- Investigation of Liver X Receptor Gene Variants and Oxysterol Dysregulation in Autism Spectrum Disorder.Children (Basel, Switzerland) · 2024Article
- Lipoprotein Particles in Cerebrospinal Fluid.Arteriosclerosis, thrombosis, and vascular biology · 2024Review
- Caveolin-1-Mediated Cholesterol Accumulation Contributes to Exaggerated mGluR-Dependent Long-Term Depression and Impaired Cognition in Fmr1 Knockout Mice.Molecular neurobiology · 2023Article
- Article
- Integrative omics indicate FMRP sequesters mRNA from translation and deadenylation in human neuronal cells.Molecular cell · 2022Article
- Alteration of Fatty Acid Profile in Fragile X Syndrome.International journal of molecular sciences · 2022Article
- Clinical significance of matrix metalloproteinase-9 in Fragile X Syndrome.Scientific reports · 2022Article
- Effects of Soy-Based Infant Formula on Weight Gain and Neurodevelopment in an Autism Mouse Model.Cells · 2022Article
- Brain Cholesterol Biosynthetic Pathway Is Altered in a Preclinical Model of Fragile X Syndrome.International journal of molecular sciences · 2022Article
- Association of lipid rafts cholesterol with clinical profile in fragile X syndrome.Scientific reports · 2022Article
- Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits.Translational psychiatry · 2021Article
- A new strategy to uncover fragile X proteomic biomarkers using the nascent proteome of peripheral blood mononuclear cells (PBMCs).Scientific reports · 2021Article
- An "Omic" Overview of Fragile X Syndrome.Biology · 2021Review
- Dysregulation of Neuronal Nicotinic Acetylcholine Receptor-Cholesterol Crosstalk in Autism Spectrum Disorder.Frontiers in molecular neuroscience · 2021Article
- The RNA-binding fragile-X mental retardation protein and its role beyond the brain.Biophysical reviews · 2020Review
- Reduced serum levels of pro-inflammatory chemokines in fragile X syndrome.BMC neurology · 2020Article
- Ser-Phosphorylation of PCSK9 (Proprotein Convertase Subtilisin-Kexin 9) by Fam20C (Family With Sequence Similarity 20, Member C) Kinase Enhances Its Ability to Degrade the LDLR (Low-Density Lipoprotein Receptor).Arteriosclerosis, thrombosis, and vascular biology · 2019Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFragile X Syndrome (FXS) is the main genetic cause of autism and intellectual deficiency resulting the absence of the Fragile X Mental Retardation Protein (FMRP). Clinical picture is characterized by cognitive impairment associated with a broad spectrum of psychiatric comorbidities including autism spectrum disorders and attention-deficit/hyperactivity disorders. Some of these disorders have been associated with lipid abnormalities and lower cholesterol levels. Since lipids are important for neuronal development, we aim to investigate the lipid profile of French Canadian-FXS individuals and to identify the altered components of cholesterol metabolism as well as their association with clinical profile.
methodsAnthropometric data were collected from 25 FXS individuals and 26 controls. Lipid assessment included: total cholesterol (TC), triglycerides, LDL, HDL, ApoB, ApoA1, PCSK9, Lp(a) and lipoprotein electrophoresis. Aberrant and adaptive behaviour of affected individuals was respectively assessed by the ABC-C and ABAS questionnaires.
resultsFXS participants had a higher body mass index as compared to controls while 38% of them had TC<10th percentile. Lower levels of LDL, HDL and apoA1 were observed in FXS group as compared to controls. However, PCSK9 levels did not differ between the two groups. As expected, PCSK9 levels correlated with total cholesterol (rs = 0.61, p = 0.001) and LDL (rs = 0.46, p = 0.014) in the control group, while no association was present in the FXS group. An inverse relationship was observed between total cholesterol and aberrant behaviour as determined by ABC-C total score.
conclusionOur results showed the presence of hypocholesterolemia in French Canadian-FXS population, a condition that seems to influence their clinical phenotype. We identified for the first time a potential underlying alteration of PCSK9 function in FXS that could result from the absence of FMRP. Further investigations are warranted to better understand the association between cholesterol metabolism, PCSK9, FMRP and clinical profile.
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