📢 New in #JIMD

The first international consensus guidelines for pyruvate dehydrogenase complex deficiency (PDCD) bring together 199 recommendations covering diagnosis, treatment, ketogenic diet, emergency care, surveillance & transition.

📄 doi.org/10.1002/jimd...

#PDCD #MitoDisease #RareDisease

In a multicentre cohort of 202 patients, Kristensen et al. show:
• >50% develop liver disease
• Highest risk in early-onset POLG
• Infection-associated onset and polymerase-domain variants increase risk
• Liver involvement strongly predicts poor survival

doi.org/10.1002/jimd...
#POLG #Mitodisease

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

We need better biomarkers for identifying mitochondrial disease; we welcome this work from Fernandez et al exploring the use of growth differentiation factor 15 as a biomarker in mtDNA related disorders.
https://doi.org/10.1002/jimd.12821

#mitodisease #mitochondria

The Landoni Lab opens this summer at UNIL! @fbm-unil.bsky.social 🔬 Quantitative #imaging + systems biology to decipher how #metabolic architecture & #mtDNA dynamically shape tissue development, #aging and #mitodisease. Beyond excited to fire up the lasers, open positions soon! 🧪 #mitochondria #newPI

Fresh new paper alert 🚨 by @marcellharhai.bsky.social @jourdainlab.bsky.social et al. expanding the inventory of potential #mitodisease genes and a herculean deep-dive into FAM136A across models and human disease! 🧪🧫🐭👂
Really happy to see it out and to have played a small part 🔬

#mito #sciencesky

⬆️🔝From the Mitochondrial Research Group at the House of Lords: Prof Hudson, Prof McFarland, Dr Pickett and Prof Taylor.

The new LifeArc Centre for Rare Mitochondrial Diseases promises to deliver better diagnostics, biomarkers and new treatments for families with #mitodisease 💚

We are excited to join friends and colleagues from @lilyfoundation.bsky.social , @mdukcharity.bsky.social , @uniofcam.bsky.social and @ucl.ac.uk
at the House of Lords to launch the new LifeArc Centre for Rare Mitochondrial Disease
#mitodisease

Great talks at a cool venue! Delighted to contribute to the Clinical Genetics Society conference in #Sheffield presenting our work on the application of #technologies to leverage #mitodisease diagnoses

This is my daughter. She is a #zebra #mitodisease. She has private insurance and is also on #medicaid. Without the #aca #medicaid or #ssd, she will die.

What has she ever done to deserve this?

#gop #facesoftheforgotten #disabled #specialneeds #sped #doe #louisiana #lookatme

#mitodisease #disabled #kids #tuckfrump