We utilized a sample of 299 adult females aged between 19 and 86 years, carrying fragile X mental retardation (FMR1) alleles with small CCG expansions ranging from 50 to 141 repeats to analyse the relationships between psychological symptoms as assessed by the Symptom Checklist-90-Revised (SCL-90-R) and the size of the CGG repeat in the FMR1 gene. There were highly significant (negative) correlations between the size of the CGG repeat and a great majority of SCL-90-R subscale scores and all the global indices, suggesting that carriers of premutations in the mid-size CGG repeat range may be at greatest risk for the development of psychiatric disorder.
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http://dx.doi.org/10.1111/cge.12347 | DOI Listing |
Int J Mol Sci
December 2024
Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, CA 95817, USA.
Fragile X syndrome (FXS) is a genetic condition caused by the inheritance of alleles with >200 CGG repeats in the 5' UTR of the fragile X messenger ribonucleoprotein 1 () gene. These full mutation (FM) alleles are associated with DNA methylation and gene silencing, which result in intellectual disabilities, developmental delays, and social and behavioral issues. Mosaicism for both the size of the CGG repeat tract and the extent of its methylation is commonly observed in individuals with the FM.
View Article and Find Full Text PDFJ Assist Reprod Genet
November 2024
Faculty of Medicine, King Mongkut's Institute of Technology Ladkrabang, Bangkok, Thailand.
Neurol Genet
August 2024
From the Department of Medicine (S.P.), Bhumibol Adulyadej Hospital; Department of Neurology (M.A., T.T.), Neurological Institute of Thailand; Department of Medicine (R.W., C.D.), Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok; Department of Medicine (T.L.), HRH Princess Sirindhorn Hospital, Rayong; Department of Radiology (S.W.), Bhumibol Adulyadej Hospital, Bangkok, Thailand; Department of Neuromuscular Research (A.Y., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); and Department of Clinical Genome Analysis (S.F., A.I., I.N.), Medical Genome Center, NCNP, Tokyo, Japan.
Objectives: This study characterizes oculopharyngodistal myopathy in 4 Thai patients from 3 families with CGG/CCG repeat expansion in .
Methods: Repeat-primed PCR analyzed CGG/CCG repeat size in in 4 Thai patients suspected of oculopharyngodistal myopathy (OPDM). Clinical records were reviewed for clinicopathologic features.
Food Chem
January 2025
Department of Food Science and Biotechnology, Kangwon National University, Chuncheon 24341, South Korea; Institute of Fermentation and Brewing, Kangwon National University, Chuncheon 24341, Republic of Korea. Electronic address:
To enhance stability and bioaccessibility of curcumin in Pickering emulsions stabilized by starch nanoparticles (SNP), cationized guar gum (CGG) was incorporated into the emulsion. Zeta potential results revealed that SNP and CGG formed electrostatic interactions, resulting in stable interfacial layer with higher hydrophobicity. Adding 0.
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