Therapeutic approaches to imprinting diseases
Elsevier eBooks(2024)
摘要
Genomic imprinting disorders are rare diseases that arise from the disruption of genetic or epigenetic mechanisms, within monoallelic expressed genes from a parental-specific allele. The main epigenetic deregulated process is the deoxyribonucleic acid methylation affecting the chromatin organization and resulting in aberrant dosages of imprinted genes. They require multidisciplinary approach. In this review, we discussed the epigenetic alterations reported in some imprinting syndromes, summarized the advances in therapeutic approaches to develop new epi-editors drugs in order to avoid symptomatic treatments. These promising strategies are attractive but their administration during early development is important to counter and the realistic applicability is still the major concern. Genomic imprinting disorders have a family psychological impact and point the urge to promote science researches and start in the near feature, efficiently clinical trials, in the framework of international collaborations that bring together these small numbers of patients around the world.
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关键词
therapeutic approaches
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