shot-button
Subscription Subscription
Home > Lifestyle News > Health And Fitness News > Article > Researchers identify potential treatment for Angelman Syndrome a rare genetic disorder

Researchers identify potential treatment for Angelman Syndrome, a rare genetic disorder

Updated on: 08 July,2024 04:30 PM IST  |  San Francisco
IANS |

A team of researchers from the US-based University of North Carolina has identified a potential treatment for a rare genetic disorder -- 'Angelman syndrome', a new study said on Monday

Researchers identify potential treatment for Angelman Syndrome, a rare genetic disorder

Image for representational purposes only (Photo Courtesy: iStock)

Listen to this article
Researchers identify potential treatment for Angelman Syndrome, a rare genetic disorder
x
00:00

A team of researchers from the US-based University of North Carolina has identified a potential treatment for a rare genetic disorder -- 'Angelman syndrome', a new study said on Monday.


Angelman syndrome is caused by mutations in the maternally inherited UBE3A gene and is characterised by poor muscle control, limited speech, epilepsy, and intellectual disabilities, explained researchers in the study published in the journal Nature Communications.



Ben Philpot, PhD, the Kenan Distinguished Professor at the UNC School of Medicine, and his lab have identified a small molecule that could be safe, non-invasively delivered, and capable of 'turning on' the dormant paternally-inherited UBE3A gene copy brain-wide, which would lead to proper protein and cell function, amounting to a kind of gene therapy for individuals with Angelman syndrome.


"This compound we identified has shown to have excellent uptake in the developing brains of animal models," said Philpot, who is a leading expert on Angelman syndrome.

As per researchers, UBE3A helps regulate the levels of important proteins; missing a working copy leads to severe disruptions in brain development.

The researchers screened over 2,800 small molecules to determine if one could potently turn on paternal UBE3A in mouse models with Angelman syndrome.

They found that a compound -- (S)-PHA533533, which was previously developed as an anti-tumour agent, caused neurons to express a fluorescent glow that rivalled that induced by topotecan, meaning that its effect was potent enough to successfully turn on paternal UBE3A.

Researchers were able to confirm the same results using induced pluripotent stem cells derived from humans with Angelman syndrome, indicating that this compound has clinical potential, the study mentioned.

In addition, they observed that (S)-PHA533533 has excellent bioavailability in the developing brain, meaning it travels to its target with ease and sticks around.

"We were able to show that (S)-PHA533533 had better uptake and that the same small molecule could be translated in human-derived neural cells, which is a huge finding," said Hanna Vihma, PhD, and first author of the study.

Also Read: Zika virus can lead to neurological complications: Doctors

This story has been sourced from a third party syndicated feed, agencies. Mid-day accepts no responsibility or liability for its dependability, trustworthiness, reliability and data of the text. Mid-day management/mid-day.com reserves the sole right to alter, delete or remove (without notice) the content in its absolute discretion for any reason whatsoever

"Exciting news! Mid-day is now on WhatsApp Channels Subscribe today by clicking the link and stay updated with the latest news!" Click here!

Register for FREE
to continue reading !

This is not a paywall.
However, your registration helps us understand your preferences better and enables us to provide insightful and credible journalism for all our readers.

Mid-Day Web Stories

Mid-Day Web Stories

This website uses cookie or similar technologies, to enhance your browsing experience and provide personalised recommendations. By continuing to use our website, you agree to our Privacy Policy and Cookie Policy. OK