Low Levels of HDL in Fragile X Syndrome Patients
Open accessAbstract
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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Individuals with FXS have reduced peripheral cholesterol and triacylglycerol, and an abnormal profile of fatty acids.
“Individuals with FXS have reduced peripheral cholesterol and triacylglycerol (TAG), and an abnormal profile of fatty acids (FA)19–21, which questions the appropriateness of the lovastatin treatment.”
From An iPSC-derived astrocyte model of fragile X syndrome exhibits dysregulated cholesterol homeostasis (2023) · cites this paper as [20]
The Results report significantly higher, not reduced, serum triacylglycerols in FXS patients compared with controls. Total cholesterol was numerically lower but did not differ statistically; the paper reports lower HDL-C and does not report a fatty-acid profile. (LLM, conf=0.90)
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Experimental — accuracy not yet measuredIndividuals with fragile X syndrome have low cholesterol, HDL, LDL, and ApoA1 levels, and their degree of maladaptive behaviors occurs in inverse relationship to cholesterol levels.
“Individuals with fragile X syndrome have low cholesterol, HDL, LDL, and ApoA1 levels [39–41], and their degree of maladaptive behaviors occurs in inverse relationship to cholesterol levels [40].”
From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [41]
The Results (page unavailable) report significantly lower HDL-C in males with fragile X syndrome, while total cholesterol and LDL-C did not differ statistically from controls. The paper does not report ApoA1 levels or an inverse relationship between maladaptive behavior and cholesterol; its Introduction describes behavior without linking it to cholesterol. (LLM, conf=0.89)
Experimental — accuracy not yet measuredStatistically significant lower levels of total cholesterol and HDL-cholesterol have been observed in the serum of FXS patients compared to the normal population.
“statistically significant lower levels of total cholesterol and HDL-cholesterol have been observed in the serum of FXS patients if compared to the normal population [26,27].”
From Brain Cholesterol Biosynthetic Pathway Is Altered in a Preclinical Model of Fragile X Syndrome (2022) · cites this paper as [26]
The Results report significantly lower HDL-C in FXS patients than in age-matched controls. Total cholesterol was lower on average, but the difference was not statistically significant (Table 2, p = 0.09). The study compared patients with controls, not with population-wide normative data; page numbers were not provided in our copy. (LLM, conf=0.93)
Experimental — accuracy not yet measuredThe Fmr1-Δexon 8 rat model mimics the reduced plasma cholesterol content observed in FXS patients.
“Our study demonstrates that the Fmr1-Δexon 8 preclinical model mimics the reduced plasma cholesterol content observed in FXS patients [26,27].”
From Brain Cholesterol Biosynthetic Pathway Is Altered in a Preclinical Model of Fragile X Syndrome (2022) · cites this paper as [26]
The Results report significantly lower serum HDL-C in FXS patients, but total cholesterol did not differ statistically from controls. The Discussion likewise says total cholesterol was lower only as a nonsignificant trend. This supports reduced HDL-C, not an established reduction in overall cholesterol content; the rat-model finding is the citing authors’ own result. (LLM, conf=0.87)
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Cites
Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics
Bagni, C., Tassone, F., Neri, G., & Hagerman, R. (2012) · Journal of Clinical Investigation · doi:10.1172/jci63141 · Cited by 321 · see citing works
Cholesterol levels in Fragile X syndrome
Berry‐Kravis, E., Levin, R., Shah, H., Mathur, S., Darnell, J. C., & Ouyang, B. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36850 · Cited by 59 · see citing works
Flagged first, then by citations
Research works printed but not linked: 12
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Cited by
Sorted by citations
Fragile X syndrome: a review of clinical and molecular diagnoses
Ciaccio, C., Fontana, L., Milani, D., Tabano, S., Miozzo, M., & Esposito, S. (2017) · Italian Journal of Pediatrics · doi:10.1186/s13052-017-0355-y · Cited by 160 · see citing works
Tierney, E., Remaley, A. T., Thurm, A., Jager, L. R., Wassif, C. A., Kratz, L. E., Bailey-Wilson, J. E., Bukelis, I., Sarphare, G., Jung, E. S., et al. (2021) · Translational Psychiatry · doi:10.1038/s41398-021-01580-8 · Cited by 26 · see citing works
Brain Cholesterol Biosynthetic Pathway Is Altered in a Preclinical Model of Fragile X Syndrome
Parente, M., Tonini, C., Buzzelli, V., Carbone, E., Trezza, V., & Pallottini, V. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23063408 · Cited by 11 · see citing works
“The cholesterol plasma alterations observable in patients [26,27] are excellently mimicked by Fmr1-∆exon 8 rats, making this experimental model very useful in this research field.”
BackgroundAn iPSC-derived astrocyte model of fragile X syndrome exhibits dysregulated cholesterol homeostasis
Talvio, K., Wagner, V. A., Minkeviciene, R., Kirkwood, J. S., Kulinich, A. O., Umemori, J., Bhatia, A., Hur, M., Käkelä, R., Ethell, I. M., et al. (2023) · Communications Biology · doi:10.1038/s42003-023-05147-9 · Cited by 8 · see citing works
“Decreased cholesterol has been previously reported in serum and platelets of individuals with FXS (1-3) as well as in the serum of an FXS rat model (4).”
Background
- Authors
- Lisik, M. Z., Gutmajster, E., & Sieroń, A. L.
- Affiliations
- Medical University of Silesia (PL)
- Corresponding author
- Lisik, Małgorzata Z.
- Venue
- Lipids
- Publisher
- Wiley
- Published
- 2015-12-28
- Volume
- 51
- Issue
- 2
- Pages
- 189-192
- ISSN
- 0024-4201 (ISSN-L)
- 1558-9307
- PMC
- PMC4735238
- OpenAlex
- W2284446072
- Cited by
- 19
- References
- 2
- Citations by year
- 2023: 3 · 2022: 5 · 2021: 2 · 2020: 3 · 2019: 3 · 2017: 3
- FWCI
- 0.68
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Lipids (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- Śląski Uniwersytet Medyczny (KNW‐2‐021/10)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Keywords
- fragile X syndrome, HDL cholesterol, serum lipids, triglycerides, FMR1 gene, CGG repeat expansion, lipid metabolism, autism spectrum disorder, intellectual disability
- MeSH terms
- Adult, Cholesterol, Fragile X Syndrome, Humans, Lipoproteins, HDL, Lipoproteins, LDL, Male, Triglycerides, Fragile X Messenger Ribonucleoprotein 1
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