Article
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
Nature genetics - 1 Feb 2014
Logan Clare V, Szabadkai György, Sharpe Jenny A, Parry David A, Torelli Silvia, Childs Anne-Marie, Kriek Marjolein, Phadke Rahul, Johnson Colin A, Roberts Nicola Y, Bonthron David T, Pysden Karen A, Whyte Tamieka, Munteanu Iulia, Foley A Reghan, Wheway Gabrielle, Szymanska Katarzyna, Natarajan Subaashini, Abdelhamed Zakia A, Morgan Joanne E, Roper Helen, Santen Gijs W E, Niks Erik H, van der Pol W Ludo, Lindhout Dick, Raffaello Anna, De Stefani Diego, den Dunnen Johan T, Sun Yu, Ginjaar Ieke, Sewry Caroline A, Hurles Matthew, Rizzuto Rosario, Duchen Michael R, Muntoni Francesco, Sheridan Eamonn
Abstract excerpt
Mitochondrial Ca(2+) uptake has key roles in cell life and death. Physiological Ca(2+) signaling regulates aerobic metabolism, whereas pathological Ca(2+) overload triggers cell death. Mitochondrial Ca(2+) uptake is mediated by the Ca(2+) uniporter complex in the inner mitochondrial membrane, which comprises MCU, a Ca(2+)-selective ion channel, and its regulator, MICU1. Here we report mutations of MICU1 in...
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