Summary- paper 56:
ER calcium depletion as a key driver for impaired ER-to-mitochondria calcium transfer and mitochondrial dysfunction in Wolfram syndrome
Mailis Liiv, Annika Vaarmann, Dzhamilja Safiulina, Vinay Choubey, Ruby Gupta, Malle Kuum, Lucia Janickova, Zuzana Hodurova, Michal Cagalinec, Akbar Zeb, Miriam A. Hickey, Yi-Long Huang, Nana Gogichaishvili, Merle Mandel, Mario Plaas, Eero Vasar, Jens Loncke, Tim Vervliet, Ting-Fen Tsai, Geert Bultynck, Vladimir Veksler & Allen Kaasik
Nature Communications, 2024
Questions/gaps addressed:
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Wolfram syndrome is a rare genetic disease caused by mutations in the wolframin gene (WFS1)-prevalent, or in the CDGSH iron-sulfur-containing domain 2 gene (CISD2)-rarer. Both genes encode transmembrane endoplasmic reticulum (ER) proteins.
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loss of WFS1 reduced the number of mitochondrial contact sites with the ER (MAMs), decreased Ca2+ uptake by mitochondria, and decreased mitochondrial respiration