EPIGENETIC IMPRINTING DISORDERS: A FOCUS ON ANGELMAN AND PRADER-WILLI SYNDROMES
“πππ‘π£πππ₯πππ πππ€π π£πππ£π€ ππ£π π πππ ππ πππππ π£πππππππ£ π₯πππ₯ ππππ ππ©π‘π£ππ€π€ππ π ππ€ ππ π₯ π πππͺ πππ π¦π₯ π¨πππ₯ πππππ€ π¨π πππππ£ππ₯, ππ¦π₯ πππ€π πππ π¦π₯ ππ π¨ πππ ππ£π π π¨ππ π π¨π πππππ£ππ₯ π₯πππ.” - Professor James Lupski
𧬠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:
πΉ 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.
πΉ 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.
πΉ 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 ✍π»
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