EPIGENETIC IMPRINTING DISORDERS: A FOCUS ON ANGELMAN AND PRADER-WILLI SYNDROMES

“𝕀𝕞𝕡𝕣𝕚𝕟𝕥𝕚𝕟𝕘 𝕕𝕚𝕤𝕠𝕣𝕕𝕖𝕣𝕤 𝕒𝕣𝕖 𝕒 𝕓𝕚𝕠𝕝𝕠𝕘𝕚𝕔𝕒𝕝 𝕣𝕖𝕞𝕚𝕟𝕕𝕖𝕣 𝕥𝕙𝕒𝕥 𝕘𝕖𝕟𝕖 𝕖𝕩𝕡𝕣𝕖𝕤𝕤𝕚𝕠𝕟 𝕚𝕤 𝕟𝕠𝕥 𝕠𝕟𝕝𝕪 𝕒𝕓𝕠𝕦𝕥 𝕨𝕙𝕒𝕥 𝕘𝕖𝕟𝕖𝕤 𝕨𝕖 𝕚𝕟𝕙𝕖𝕣𝕚𝕥, 𝕓𝕦𝕥 𝕒𝕝𝕤𝕠 𝕒𝕓𝕠𝕦𝕥 𝕙𝕠𝕨 𝕒𝕟𝕕 𝕗𝕣𝕠𝕞 𝕨𝕙𝕠𝕞 𝕨𝕖 𝕚𝕟𝕙𝕖𝕣𝕚𝕥 𝕥𝕙𝕖𝕞.” - Professor James Lupski

🧬 Epigenetic imprinting disorders stem from disrupted parent-specific gene expression, where only one allele (maternal or paternal) is normally active. The chromosome 15q11–q13 region is central to two major disorders:

          🔹 Angelman Syndrome (AS), caused by loss of function of the UBE3A gene (maternally expressed in neurons), AS manifests with severe developmental delay, ataxia, minimal speech, seizures, and a characteristic happy demeanor. Early diagnosis and therapies; speech, occupational, and behavioral; are critical for quality of life.

          🔹 Prader-Willi Syndrome (PWS), arises from loss of paternal gene expression via deletion or maternal uniparental disomy. Hallmarks include hypotonia, hyperphagia, obesity, cognitive impairments, and behavioral challenges. Management involves dietary control, growth hormone therapy, and behavioral support.

          🔹 Genetic diagnosis using methylation-specific PCR and FISH is vital, along with genetic counseling. Promising research is exploring CRISPR-based activation of UBE3A and epigenetic therapies to restore function in PWS.

⚠️ In an Oystershell, as science advances, targeted interventions may reshape the future for individuals affected by imprinting disorders; where genetics, neurology, and therapy converge.

Abubakar Abubakar ✍🏻

• Buiting, K. (2010). American Journal of Medical Genetics Part C: Seminars in Medical Genetics Volume 154C, Issue 3 Paper page 335-342.

•  Tan, W. H., Bird, L. M., Thibert, R. L., & Williams, C. A. (2011). American Journal of Medical Genetics Part AVolume 155, Issue 7 Paper page 1690-1696.

•  Waites, Clarissa L. et al.
Trends in Neurosciences, Volume 34, Issue 6, Paper page 326 - 337.

• Butler, M. G. (2011). Current Genomics, Volume 12, Issue 3, Paper page 204–215.

#Epigenetics #GeneticDisorders #AngelmanSyndrome #PraderWilliSyndrome #GenomicImprinting #RareDiseases #MedicalGenetics #Neurodevelopment #GeneTherapy #CRISPR #GeneticCounseling #PrecisionMedicine #NGS #TranslationalResearch #MolecularBiology #BiomedicalScience #MaternalCare #ART🔬

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