Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling (Articolo in rivista)
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- Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling (Articolo in rivista) (literal)
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- 2014-01-01T00:00:00+01:00 (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
- 10.1038/ng.2851 (literal)
- Alternative label
- Logan, Clare V.; Szabadkai, Gyoergy; 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 (2014)(literal)
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
in Nature genetics (Print)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
- Logan, Clare V.; Szabadkai, Gyoergy; 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 (literal)
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- 188 (literal)
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- http://www.nature.com/ng/journal/v46/n2/full/ng.2851.html (literal)
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- 46 (literal)
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- St James Univ Hosp; University College London; University of Padua; Consiglio Nazionale delle Ricerche (CNR); University College London; University College London; University of Leeds; Leiden University; University College London; University of Birmingham; Leiden University; University of Utrecht; University of Utrecht; Keele University; Wellcome Trust Sanger Institute (literal)
- Titolo
- Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling (literal)
- Abstract
- Mitochondrial Ca2+ uptake has key roles in cell life and death. Physiological Ca2+ signaling regulates aerobic metabolism, whereas pathological Ca2+ overload triggers cell death. Mitochondrial Ca2+ uptake is mediated by the Ca2+ uniporter complex in the inner mitochondrial membrane1,2, which comprises MCU, a Ca2+-selective ion channel, and its regulator, MICU1. Here we report mutations of MICU1 in individuals with a disease phenotype characterized by proximal myopathy, learning difficulties and a progressive extrapyramidal movement disorder. In fibroblasts from subjects with MICU1 mutations, agonist-induced mitochondrial Ca2+ uptake at low cytosolic Ca2+ concentrations was increased, and cytosolic Ca2+ signals were reduced. Although resting mitochondrial membrane potential was unchanged in MICU1-deficient cells, the mitochondrial network was severely fragmented. Whereas the pathophysiology of muscular dystrophy3 and the core myopathies4 involves abnormal mitochondrial Ca2+ handling, the phenotype associated with MICU1 deficiency is caused by a primary defect in mitochondrial Ca2+ signaling, demonstrating the crucial role of mitochondrial Ca2+ uptake in humans. (literal)
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