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
⬆️🔝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
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
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
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
