Abstract
Calcium Signaling Wolfram syndrome is caused by loss-of-function mutations in the endoplasmic reticulum (ER) protein WFS1. However, patients show symptoms typically associated with mitochondrial dysfunction, such as diabetes and optic atrophy. Angebault et al. found that patient fibroblasts had reduced mitochondria-ER contact sites, decreased mitochondrial calcium (Ca2+) uptake, and lower mitochondrial respiration than control fibroblasts. WFS1 deficiency destabilized the Ca2+ sensor NCS1, and reconstituting NCS1 in patient fibroblasts restored mitochondrial respiration and Ca2+ signaling. Sci. Signal. 11 , eaaq1380 (2018).
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