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NEW YORK DAWN™ > Blog > Health > GLP-1 therapies present potential for treating uncommon genetic dysfunction Bardet-Biedl syndrome
GLP-1 therapies present potential for treating uncommon genetic dysfunction Bardet-Biedl syndrome
Health

GLP-1 therapies present potential for treating uncommon genetic dysfunction Bardet-Biedl syndrome

Last updated: April 18, 2025 5:40 pm
Editorial Board Published April 18, 2025
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Credit score: Monell Chemical Senses Heart

A Monell Chemical Senses Heart research revealed this week within the Journal of Medical Investigation provides renewed hope for people dwelling with Bardet-Biedl Syndrome (BBS), a uncommon genetic dysfunction characterised by early-onset weight problems, compulsive consuming, and cognitive impairments.

The Monell staff and colleagues recognized that GLP-1 receptor agonists, a category of medicine at present used to deal with kind 2 diabetes and weight problems, as a promising therapeutic for managing the metabolic problems related to BBS.

They used a genetically engineered mouse mannequin of BBS that displayed the hallmark options of the situation, together with extreme consuming, impaired glucose regulation, behavioral deficits, and disrupted hormonal perform. Remarkably, remedy with a GLP-1 receptor agonist (reminiscent of Ozempic and Wegovy) considerably diminished meals consumption, triggered weight reduction, improved glucose tolerance, and normalized metabolic hormone ranges within the animals.

“Our findings suggest that GLP-1-based therapies effectively target gut and brain pathways involved in feeding and metabolism, even in the context of a complex genetic disorder like BBS,” mentioned first creator Arashdeep Singh, Ph.D., former Monell Analysis Affiliate. “This offers a much-needed treatment option for an underserved population.” Singh now holds the place of Scientist at Analysis Diets, Inc. positioned in New Brunswick, NJ.

GLP-1 therapies show potential for treating rare genetic disorder Bardet-Biedl syndrome

Credit score: Journal of Medical Investigation (2025). DOI: 10.1172/JCI184636

Distinctive mannequin provides hope

The BBS mice are a good approximation of the illness in people. Particularly, their white fats tissue had immune cells extra liable to irritation and dysfunctional anti-inflammatory T cells, suggesting a distinct mechanism for weight acquire in comparison with typical weight problems animal fashions.

As well as, BBS mice exhibited enlarged pancreatic islet cells, suggesting faulty management of insulin ranges within the circulatory system. The dysregulated molecular pathways they discovered additionally confirmed the cell-to-cell communication defects with insulin, leptin, and different hormones, but on the similar time preserving GLP-1R’s regular perform.

Crucially, when BBC mice got a GLP-1R, it successfully alleviated overeating, lessened physique weight acquire, improved glucose tolerance, and normalized circulating metabolic hormones.

General, the research establishes two causes for hope for a BBS remedy: one, BBS mice are a precious mannequin of this uncommon illness to know its pathology and develop higher remedies and two, the staff’s findings spotlight the therapeutic potential of GLP-1R agonists for managing BBS-associated metabolic dysregulation, warranting additional investigation for scientific utility.

Regardless of the promise of this analysis, real-world entry to remedy stays a significant problem. The authors notice that in conversations with physicians, they encountered hesitancy in prescribing GLP-1 therapies to BBS sufferers, largely as a consequence of a scarcity of scientific trial information. Many sufferers, particularly in america, additionally face further systemic obstacles, reminiscent of restrictive medical insurance protection guidelines. BBS has a prevalence in North America and Europe of 1 in 140,000 to 1 in 160,000 newborns.

“This study represents a significant step forward in closing the treatment gap for BBS and demonstrates how targeting central satiety pathways with GLP-1 therapies may benefit patients whose conditions have long lacked effective medical options,” mentioned senior creator Guillaume de Lartigue, Ph.D., Monell Affiliate Member.

Extra info:
Arashdeep Singh et al, Transcriptome-guided GLP-1 receptor remedy rescues metabolic and behavioral disruptions in a Bardet-Biedl Syndrome mouse mannequin, Journal of Medical Investigation (2025). DOI: 10.1172/JCI184636

Supplied by
Monell Chemical Senses Heart

Quotation:
GLP-1 therapies present potential for treating uncommon genetic dysfunction Bardet-Biedl syndrome (2025, April 18)
retrieved 18 April 2025
from https://medicalxpress.com/information/2025-04-glp-therapies-potential-rare-genetic.html

This doc is topic to copyright. Aside from any truthful dealing for the aim of personal research or analysis, no
half could also be reproduced with out the written permission. The content material is supplied for info functions solely.

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TAGGED:BardetBiedldisordergeneticGLP1PotentialrareShowsyndrometherapiestreating
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