Check out this @cellpress.bsky.social paper! 👇

It identifies sildenafil as a potential treatment for #LeighSyndrome, showing it improves mitochondrial function, disease phenotypes, and patient outcomes.

🗞️ https://bit.ly/4rAuTe6
🎧 https://bit.ly/4sKXLlt

Pluripotent stem-cell-based screening uncovers sildenafil as a mitochondrial disease therapy Leigh syndrome is a severe and untreatable mitochondrial disease. Using patient-derived models in 2D and 3D, Zink and colleagues identify the PDE5 inhibitor sildenafil as a repurposable drug candidate...

💡 Promising results: The active ingredient in Viagra, sildenafil, may help treat the rare genetic #LeighSyndrome. In a small pilot study, 6 patients showed improved muscle strength & #neurological function. Next step: a Europe-wide clinical trial. 🔬💊 #RareDisease
www.cell.com/cell/fulltex...

Late-stage Leigh syndrome shows just how vulnerable the heart is to mitochondrial stress. In Ndufs4 KO mice, near-complete complex I loss forces a shift toward complex II respiration, yet cardiac energy substrates are profoundly depleted.

🔗 doi.org/10.1002/jimd...

#LeighSyndrome

UniProt UniProt is the world's leading high-quality, comprehensive and freely accessible resource of protein sequence and functional information.

(5/5) As a result, the work lead by Frederic and Antònia shed a bit more light on #COX4I1 ( #UniProt link → www.uniprot.org/uniprotkb/P1... ), and its role in #LeighSyndrome, a condition that affects approximately 1 in 40,000 live births.

Each month we will share information about a different type of leukodystrophy to help raise awareness 💙

Condition information: https://alextlc.org/condition/leigh-syndrome/

We support people affected by all types of leukodystrophy, email info@alextlc.org

#AlexTLC #LeighSyndrome #Leukodystrophy

RTN4IP1 is no longer a black box. With collaborative science, we’re piecing together the puzzle of mitochondrial disease—one gene at a time. What other secrets do our mitochondria hold? 🔬✨

#Genetics #Mitochondria #CRISPR #Science #RTN4IP1 #CoenzymeQ #LeighSyndrome

Revolutionary Drug Mimics High-Altitude Health Benefits In the quest for longevity and improved health, scientists are exploring unconventional avenues that mimic the physiological benefits of high-altitude living. Researchers from the Gladstone Institutes have made a groundbreaking advancement by developing a drug that replicates the cellular advantages of low-oxygen therapy, specifically targeting inherited mitochondrial diseases. This innovative approach could change the lives of many, particularly those battling deadly conditions like Leigh Syndrome.

READ THIS ARTICLE IN FULL ON BRAIN HEALTH ON-LINE: #HighAltitudeLiving #MitochondrialDiseases #LeighSyndrome #HypoxyStat #BiomedicalResearch #Longevity #HealthInnovation #DrugDevelopment #GeneticConditions #ClinicalTrials #OxygenTherapy #GladstoneInstitutes #MazeTherapeutics #CellularHealth #Brain

New podcast: Disease Models in Leigh Syndrome

Apple: podcasts.apple.com/gb/podcast/j...

Spotify: open.spotify.com/episode/2wrv...

Or search for JIMD Podcasts wherever you like to listen
#LeighSyndrome #MitoDisease #viagra
@aleprigio.bsky.social @mitotalks.bsky.social