Butyrate and acetyl‐carnitine inhibit the cytogenetic expression of the fragile X in vitro
Abstract
Cytogenetic expression of the fragile site at Xq27.3 is only found in those patients who have a full mutation of the FMR1 gene, i.e., a large amplification of the CGG repeat. However, an expansion of this repeat, although necessary, does not seem to be sufficient to cause expression of fra (X)(q27.3). Other factors are clearly needed, e.g., thymidylate stress. Little or no attention has been paid to the possible role of histones in the expression of the fragile sites, in spite of their structural and regulatory role in the chromatin complex. Histones can be modified by treating intact cells in vitro with butyrate, a substance that causes histone acetylation. The purpose of the present work is to test the effect of butyrate and of the acetylating compound acetyl‐L‐carnitine on the expression of fra (X)(q27.3) by treating peripheral lymphocytes of fragile X syndrome patients with these substances in vitro. we show that this treatment causes a significant inhibition of fra (X)(q27.3) expression. © 1994 Wiley‐Liss, Inc.
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Acetyl-l-carnitine inhibits cytogenetic expression of the fragile X site in patient-derived cultured lymphocytes.
“Acetyl-l-carnitine (Nicetile, a natural compound improving cell metabolism), shown to inhibit cytogenetic expression of the fragile X site in patient-derived cultured lymphocytes (98), was administered to boys with FXS (99).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [98]
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- Authors
- Pomponi, M. G., & Neri, G.
- Affiliations
- Università Cattolica del Sacro Cuore (IT)
- Corresponding author
- Neri, Giovanni
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1994-07-15
- Volume
- 51
- Issue
- 4
- Pages
- 447-450
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W2044132291
- Cited by
- 26
- References
- 16
- Citations by year
- 2024: 1 · 2023: 1 · 2022: 1 · 2018: 1 · 2017: 1 · 2015: 2 · 2012: 3
- FWCI
- 0.00
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Keywords
- fragile X syndrome, butyrate, acetyl-L-carnitine, histone acetylation, FMR1 gene, CGG repeat expansion, peripheral blood lymphocytes, chromatin regulation
- MeSH terms
- Acetylation, Acetylcarnitine, Adolescent, Adult, Aged, Butyrates, Cells, Cultured, Child, Child, Preschool, Chromosome Fragility, Fragile X Syndrome, Histones, Humans, Lymphocytes, Male, Middle Aged, Mutation, Repetitive Sequences, Nucleic Acid, Transcription, Genetic, X Chromosome, Gene Expression, Mutagenesis, Butyric Acid, Chromosome Fragile Sites
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