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Di Risi T, Vinciguerra R, Cuomo M, et al. DNA methylation impact on Fabry disease. Clin Epigenetics. 2021;13(1):24doi: 10.1186/s13148-021-01019-3.
Di Risi, T., Vinciguerra, R., Cuomo, M., Della Monica, R., Riccio, E., Cocozza, S., Imbriaco, M., Duro, G., Pisani, A., & Chiariotti, L. (2021). DNA methylation impact on Fabry disease. Clinical epigenetics, 13(1), 24. https://doi.org/10.1186/s13148-021-01019-3
Di Risi, Teodolinda, et al. "DNA methylation impact on Fabry disease." Clinical epigenetics vol. 13,1 (2021): 24. doi: https://doi.org/10.1186/s13148-021-01019-3
Di Risi T, Vinciguerra R, Cuomo M, Della Monica R, Riccio E, Cocozza S, Imbriaco M, Duro G, Pisani A, Chiariotti L. DNA methylation impact on Fabry disease. Clin Epigenetics. 2021 Feb 02;13(1):24. doi: 10.1186/s13148-021-01019-3. PMID: 33531072; PMCID: PMC7852133.
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Clin Epigenetics. 2021 Feb 02;13(1):24. doi: 10.1186/s13148-021-01019-3.

DNA methylation impact on Fabry disease.

Clinical epigenetics

Teodolinda Di Risi, Roberta Vinciguerra, Mariella Cuomo, Rosa Della Monica, Eleonora Riccio, Sirio Cocozza, Massimo Imbriaco, Giovanni Duro, Antonio Pisani, Lorenzo Chiariotti

Affiliations

  1. CEINGE - Biotecnologie Avanzate, Via Gaetano Salvatore, 486, 80145, Naples, Italy.
  2. Department of Public Health, University Federico II of Naples, Via S. Pansini, 5, 80131, Naples, Italy.
  3. Department of Molecular Medicine and Medical Biotechnology, University Federico II of Naples, Via S. Pansini, 5, 80131, Naples, Italy.
  4. Institute for Biomedical Research and Innovation, National Research Council of Italy (IRIB CNR), Palermo, Italy.
  5. Department of Advanced Biomedical Sciences, University Federico II of Naples, Via S. Pansini, 5, 80131, Naples, Italy.
  6. CEINGE - Biotecnologie Avanzate, Via Gaetano Salvatore, 486, 80145, Naples, Italy. [email protected].
  7. Department of Molecular Medicine and Medical Biotechnology, University Federico II of Naples, Via S. Pansini, 5, 80131, Naples, Italy. [email protected].

PMID: 33531072 PMCID: PMC7852133 DOI: 10.1186/s13148-021-01019-3

Abstract

BACKGROUND: Fabry disease (FD) is a rare X-linked disease caused by mutations in GLA gene with consequent lysosomal accumulation of globotriaosylceramide (Gb3). Women with FD often show highly heterogeneous symptoms that can manifest from mild to severe phenotype.

MAIN BODY: The phenotypic variability of the clinical manifestations in heterozygous women with FD mainly depends on the degree and direction of inactivation of the X chromosome. Classical approaches to measure XCI skewness might be not sufficient to explain disease manifestation in women. In addition to unbalanced XCI, allele-specific DNA methylation at promoter of GLA gene may influence the expression levels of the mutated allele, thus impacting the onset and the outcome of FD. In this regard, analyses of DNA methylation at GLA promoter, performed by approaches allowing distinction between mutated and non-mutated allele, may be much more informative. The aim of this review is to critically evaluate recent literature articles addressing the potential role of DNA methylation in the context of FD. Although up to date relatively few works have addressed this point, reviewing all pertinent studies may help to evaluate the importance of DNA methylation analysis in FD and to develop new research and technologies aimed to predict whether the carrier females will develop symptoms.

CONCLUSIONS: Relatively few studies have addressed the complexity of DNA methylation landscape in FD that remains poorly investigated. The hope for the future is that ad hoc and ultradeep methylation analyses of GLA gene will provide epigenetic signatures able to predict whether pre-symptomatic female carriers will develop symptoms thus helping timely interventions.

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