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🔬

Popular posts from this blog

FINDING LAUGHTER IN UNEXPECTED MOMENTS: A LESSON IN BEING PREPARED

Image
Today's blog is about an experience I had while visiting a religious site on the outskirts of town. As I was leaving, a lady approached me, asking for a donation. Unfortunately, I wasn’t carrying any cash at the time, so I asked her, "Do you use UPI by any chance?" She burst into laughter 😄, smiling at my unexpected question. The lesson here is that we should always be prepared with alternatives, as they might be a way to help others.  At the very least, I managed to put a smile on her face, which made the encounter worthwhile 😊
Read more

CHROMOSOMAL MICROARRAY VS. WHOLE EXOME SEQUENCING

Image
“𝓜𝓲𝓬𝓻𝓸𝓪𝓻𝓻𝓪𝔂𝓼 𝓱𝓮𝓵𝓹 𝓾𝓼 𝓯𝓲𝓷𝓭 𝓶𝓲𝓼𝓼𝓲𝓷𝓰 𝓸𝓻 𝓮𝔁𝓽𝓻𝓪 𝓬𝓱𝓻𝓸𝓶𝓸𝓼𝓸𝓶𝓪𝓵 𝓹𝓲𝓮𝓬𝓮𝓼; 𝓦𝓔𝓢 𝓽𝓪𝓴𝓮𝓼 𝓾𝓼 𝓭𝓮𝓮𝓹𝓮𝓻, 𝓲𝓷𝓽𝓸 𝓽𝓱𝓮 𝓬𝓸𝓭𝓲𝓷𝓰 𝓻𝓮𝓰𝓲𝓸𝓷𝓼 𝔀𝓱𝓮𝓻𝓮 𝓻𝓪𝓻𝓮 𝓿𝓪𝓻𝓲𝓪𝓷𝓽𝓼 𝓱𝓲𝓭𝓮.” — Ellen Matloff 🧬 Chromosomal Microarray (CMA) and Whole Exome Sequencing (WES) are cornerstones of modern genomic diagnostics. Each offers unique insights: CMA identifies large-scale structural changes like copy number variations (CNVs), while WES investigates the exome; the protein-coding portion where most pathogenic mutations reside. 🔹 CMA is a first-line tool for neurodevelopmental disorders, intellectual disability, and congenital anomalies. It scans for chromosomal imbalances missed by karyotyping, offering ~15–20% diagnostic yield in such cases. Its speed and cost-effectiveness make it a go-to for initial evaluations. 🔹 WES, by contrast, dives into the exonic 1–2% of the genome that harbors ~85% of known disease-causing ...
Read more