Short Communication - Journal of Child and Adolescent Health (2023) Volume 7, Issue 4
Epigenetic modulation of genetic disorders in children
Department of Paediatrics and Child Health
- *Corresponding Author:
- Lucy Owen
Department of Paediatrics and Child Health
Cape Town, South Africa
Received:31-July-2023, Manuscript No. AAICR-23-109688; Editor assigned:04-Aug-2023, PreQC No. AAICR-23-109688(PQ); Reviewed:18-Aug-2023, QC No. AAICR-23-109688; Revised:24-Aug-2023, Manuscript No. AAICR-23-109688(R); Published:31-Aug-2023, DOI:10.35841/aaicr-7.4.160
Citation: Owen L. Epigenetic modulation of genetic disorders in children. J Child Adolesc Health. 2023;7(4):160
Genetic disorders in children have long been the subject of intense research and medical attention. While many of these conditions are directly linked to mutations and alterations in the DNA sequence, recent studies have revealed that epigenetic modifications play a critical role in influencing gene expression and contributing to the onset and severity of genetic disorders. Epigenetics refers to heritable changes in gene activity that does not involve alterations to the underlying DNA sequence, providing a fascinating new perspective on the interplay between genetics and environmental factors. This article explores the emerging field of epigenetic modulation of genetic disorders in children and its potential implications for understanding and treating these conditions .
One of the well-studied epigenetic mechanisms, DNA methylation, involves the addition of a methyl group to specific cytosine residues in the DNA molecule. Hypermethylation typically results in gene silencing, inhibiting the transcription of affected genes, while hypomethylation can lead to increased gene expression. Aberrant DNA methylation patterns have been associated with a range of Pediatric genetic disorders, including imprinting disorders, Rett syndrome, and Angelman syndrome.. These modifications can either promote or repress gene expression, and disruptions in histone modification have been linked to various pediatric disorders, such as neurodevelopmental conditions and cancers .
Non-coding RNAs, including microRNAs and long non-coding RNAs, are crucial regulators of gene expression. MicroRNAs, for example, can bind to messenger RNAs (mRNAs) and inhibit their translation or promote their degradation. Dysregulation of non-coding RNAs has been implicated in pediatric diseases like neurodevelopmental disorders, muscular dystrophies, and metabolic disorders. Histones are proteins that package and organize DNA within the cell nucleus. Post-translational modifications of histones, such as acetylation, methylation, phosphorylation, and ubiquitination, influence the accessibility of DNA to transcriptional machinery .
Epigenetic modulation of pediatric genetic disorders
1.Epigenetic dysregulation has been extensively studied in neurodevelopmental disorders, such as autism spectrum disorder (ASD) and intellectual disabilities. Altered DNA methylation and histone modification patterns have been observed in genes associated with neuronal development, synaptic function, and neurotransmitter signaling. These changes may influence neural connectivity and cognitive processes in affected children.
2. Imprinted genes are those where only one allele is expressed based on parental origin. Disruptions in DNA methylation patterns at imprinted loci can lead to imprinting disorders, such as Beckwith-Wiedemann syndrome and Prader-Willi syndrome. These conditions are characterized by growth abnormalities, developmental delays, and metabolic dysregulation.
3. Epigenetic alterations play a significant role in pediatric cancers, influencing tumor suppressor genes and oncogenes. Aberrant DNA methylation and histone modifications can lead to the silencing of tumor suppressor genes, allowing uncontrolled cell proliferation and tumor development .
Epigenetic modulation of genetic disorders in children represents a groundbreaking field of research that sheds new light on the underlying mechanisms of pediatric diseases. The intricate interplay between genetics and epigenetics adds layers of complexity to our understanding of these conditions and opens up novel avenues for targeted therapies. As research in this area continues to advance, we may witness a transformative shift in how we diagnose, treat, and ultimately prevent pediatric genetic disorders, offering hope for improved health outcomes and a brighter future for affected children and their families .
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