Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
Michael Duchen, Francesco Muntoni, Eamonn Sheridan and colleagues show that loss-of-function mutations in MICU1 cause a recessive disorder characterized by proximal myopathy, learning difficulties and progressive extrapyramidal motor deficits. The mutations alter mitochondrial calcium homeostasis, l...
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| Published in | Nature genetics Vol. 46; no. 2; pp. 188 - 193 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New York
Nature Publishing Group US
01.02.2014
Nature Publishing Group |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1061-4036 1546-1718 1546-1718 |
| DOI | 10.1038/ng.2851 |
Cover
| Abstract | Michael Duchen, Francesco Muntoni, Eamonn Sheridan and colleagues show that loss-of-function mutations in
MICU1
cause a recessive disorder characterized by proximal myopathy, learning difficulties and progressive extrapyramidal motor deficits. The mutations alter mitochondrial calcium homeostasis, leading to mitochondrial damage and dysfunction.
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
1
,
2
, which comprises MCU, a Ca
2+
-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 Ca
2+
uptake at low cytosolic Ca
2+
concentrations was increased, and cytosolic Ca
2+
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 dystrophy
3
and the core myopathies
4
involves abnormal mitochondrial Ca
2+
handling, the phenotype associated with
MICU1
deficiency is caused by a primary defect in mitochondrial Ca
2+
signaling, demonstrating the crucial role of mitochondrial Ca
2+
uptake in humans. |
|---|---|
| AbstractList | Mitochondrial Ca^sup 2+^ uptake has key roles in cell life and death. Physiological Ca^sup 2+^ signaling regulates aerobic metabolism, whereas pathological Ca^sup 2+^ overload triggers cell death. Mitochondrial Ca^sup 2+^ uptake is mediated by the Ca^sup 2+^ uniporter complex in the inner mitochondrial membrane, which comprises MCU, a Ca^sup 2+^-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 Ca^sup 2+^ uptake at low cytosolic Ca^sup 2+^ concentrations was increased, and cytosolic Ca^sup 2+^ 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 dystrophy and the core myopathies involves abnormal mitochondrial Ca^sup 2+^ handling, the phenotype associated with MICU1 deficiency is caused by a primary defect in mitochondrial Ca^sup 2+^ signaling, demonstrating the crucial role of mitochondrial Ca^sup 2+^ uptake in humans. [PUBLICATION ABSTRACT] 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 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 Ca(2+) uptake at low cytosolic Ca(2+) concentrations was increased, and cytosolic Ca(2+) 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 dystrophy and the core myopathies involves abnormal mitochondrial Ca(2+) handling, the phenotype associated with MICU1 deficiency is caused by a primary defect in mitochondrial Ca(2+) signaling, demonstrating the crucial role of mitochondrial Ca(2+) uptake in humans. Mitochondrial [Ca.sup.2+] uptake has key roles in cell life and death. Physiological [Ca.sup.2+] signaling regulates aerobic metabolism, whereas pathological [Ca.sup.2+] overload triggers cell death. Mitochondrial [Ca.sup.2+] uptake is mediated by the [Ca.sup.2+] uniporter complex in the inner mitochondrial membrane (1,2), which comprises MCU, a [Ca.sup.2+]-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 [Ca.sup.2+] uptake at low cytosolic [Ca.sup.2+] concentrations was increased, and cytosolic [Ca.sup.2+] signals were reduced. Although resting mitochondrial membrane potential was unchanged in MICUI-deficient cells, the mitochondrial network was severely fragmented. Whereas the pathophysiology of muscular dystrophy (3) and the core myopathies (4) involves abnormal mitochondrial [Ca.sup.2+] handling, the phenotype associated with MICU1 deficiency is caused by a primary defect in mitochondrial [Ca.sup.2+] signaling, demonstrating the crucial role of mitochondrial [Ca.sup.2+] uptake in humans. Mitochondrial Ca super(2+) uptake has key roles in cell life and death. Physiological Ca super(2+) signaling regulates aerobic metabolism, whereas pathological Ca super(2+) overload triggers cell death. Mitochondrial Ca super(2+) uptake is mediated by the Ca super(2+) uniporter complex in the inner mitochondrial membrane, which comprises MCU, a Ca super(2+)-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 Ca super(2+) uptake at low cytosolic Ca super(2+) concentrations was increased, and cytosolic Ca super(2+) 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 dystrophy and the core myopathies involves abnormal mitochondrial Ca super(2+) handling, the phenotype associated with MICU1 deficiency is caused by a primary defect in mitochondrial Ca super(2+) signaling, demonstrating the crucial role of mitochondrial Ca super(2+) uptake in humans. Michael Duchen, Francesco Muntoni, Eamonn Sheridan and colleagues show that loss-of-function mutations in MICU1 cause a recessive disorder characterized by proximal myopathy, learning difficulties and progressive extrapyramidal motor deficits. The mutations alter mitochondrial calcium homeostasis, leading to mitochondrial damage and dysfunction. 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 1 , 2 , which comprises MCU, a Ca 2+ -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 Ca 2+ uptake at low cytosolic Ca 2+ concentrations was increased, and cytosolic Ca 2+ 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 dystrophy 3 and the core myopathies 4 involves abnormal mitochondrial Ca 2+ handling, the phenotype associated with MICU1 deficiency is caused by a primary defect in mitochondrial Ca 2+ signaling, demonstrating the crucial role of mitochondrial Ca 2+ uptake in humans. 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 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 Ca(2+) uptake at low cytosolic Ca(2+) concentrations was increased, and cytosolic Ca(2+) 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 dystrophy and the core myopathies involves abnormal mitochondrial Ca(2+) handling, the phenotype associated with MICU1 deficiency is caused by a primary defect in mitochondrial Ca(2+) signaling, demonstrating the crucial role of mitochondrial Ca(2+) uptake in humans.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 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 Ca(2+) uptake at low cytosolic Ca(2+) concentrations was increased, and cytosolic Ca(2+) 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 dystrophy and the core myopathies involves abnormal mitochondrial Ca(2+) handling, the phenotype associated with MICU1 deficiency is caused by a primary defect in mitochondrial Ca(2+) signaling, demonstrating the crucial role of mitochondrial Ca(2+) uptake in humans. |
| Audience | Academic |
| Author | Niks, Erik H Munteanu, Iulia Sheridan, Eamonn Foley, A Reghan Pysden, Karen A Raffaello, Anna Muntoni, Francesco Roberts, Nicola Y Lindhout, Dick Roper, Helen den Dunnen, Johan T Whyte, Tamieka Rizzuto, Rosario Natarajan, Subaashini Parry, David A Bonthron, David T Duchen, Michael R Torelli, Silvia Hurles, Matthew van der Pol, W Ludo Phadke, Rahul Szymanska, Katarzyna Logan, Clare V Sewry, Caroline A Sharpe, Jenny A Kriek, Marjolein De Stefani, Diego Santen, Gijs W E Sun, Yu Morgan, Joanne E Abdelhamed, Zakia A Childs, Anne-Marie Szabadkai, György Johnson, Colin A Ginjaar, Ieke Wheway, Gabrielle |
| Author_xml | – sequence: 1 givenname: Clare V orcidid: 0000-0003-4323-1602 surname: Logan fullname: Logan, Clare V organization: Leeds Institute of Biomedical and Clinical Science, St. James's University Hospital – sequence: 2 givenname: György surname: Szabadkai fullname: Szabadkai, György organization: Department of Cell and Developmental Biology, Consortium for Mitochondrial Research, University College London (UCL), Department of Biomedical Sciences, University of Padua and Consiglio Nazionale delle Ricerche Neuroscience Institute – sequence: 3 givenname: Jenny A surname: Sharpe fullname: Sharpe, Jenny A organization: Department of Cell and Developmental Biology, Consortium for Mitochondrial Research, University College London (UCL) – sequence: 4 givenname: David A orcidid: 0000-0003-0376-7736 surname: Parry fullname: Parry, David A organization: Leeds Institute of Biomedical and Clinical Science, St. James's University Hospital – sequence: 5 givenname: Silvia surname: Torelli fullname: Torelli, Silvia organization: UCL Institute of Child Health, Dubowitz Neuromuscular Centre and Medical Research Council (MRC) Centre for Neuromuscular Diseases – sequence: 6 givenname: Anne-Marie surname: Childs fullname: Childs, Anne-Marie organization: Department of Paediatric Neurology, Leeds General Infirmary – sequence: 7 givenname: Marjolein surname: Kriek fullname: Kriek, Marjolein organization: Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center – sequence: 8 givenname: Rahul surname: Phadke fullname: Phadke, Rahul organization: UCL Institute of Child Health, Dubowitz Neuromuscular Centre and Medical Research Council (MRC) Centre for Neuromuscular Diseases, UCL Institute of Neurology, MRC Centre for Neuromuscular Diseases – sequence: 9 givenname: Colin A surname: Johnson fullname: Johnson, Colin A organization: Leeds Institute of Biomedical and Clinical Science, St. James's University Hospital – sequence: 10 givenname: Nicola Y surname: Roberts fullname: Roberts, Nicola Y organization: Leeds Institute of Biomedical and Clinical Science, St. James's University Hospital – sequence: 11 givenname: David T surname: Bonthron fullname: Bonthron, David T organization: Leeds Institute of Biomedical and Clinical Science, St. James's University Hospital – sequence: 12 givenname: Karen A surname: Pysden fullname: Pysden, Karen A organization: Department of Paediatric Neurology, Leeds General Infirmary – sequence: 13 givenname: Tamieka surname: Whyte fullname: Whyte, Tamieka organization: UCL Institute of Child Health, Dubowitz Neuromuscular Centre and Medical Research Council (MRC) Centre for Neuromuscular Diseases – sequence: 14 givenname: Iulia surname: Munteanu fullname: Munteanu, Iulia organization: UCL Institute of Child Health, Dubowitz Neuromuscular Centre and Medical Research Council (MRC) Centre for Neuromuscular Diseases – sequence: 15 givenname: A Reghan surname: Foley fullname: Foley, A Reghan organization: UCL Institute of Child Health, Dubowitz Neuromuscular Centre and Medical Research Council (MRC) Centre for Neuromuscular Diseases – sequence: 16 givenname: Gabrielle surname: Wheway fullname: Wheway, Gabrielle organization: Leeds Institute of Biomedical and Clinical Science, St. James's University Hospital – sequence: 17 givenname: Katarzyna surname: Szymanska fullname: Szymanska, Katarzyna organization: Leeds Institute of Biomedical and Clinical Science, St. James's University Hospital – sequence: 18 givenname: Subaashini surname: Natarajan fullname: Natarajan, Subaashini organization: Leeds Institute of Biomedical and Clinical Science, St. James's University Hospital – sequence: 19 givenname: Zakia A surname: Abdelhamed fullname: Abdelhamed, Zakia A organization: Leeds Institute of Biomedical and Clinical Science, St. James's University Hospital – sequence: 20 givenname: Joanne E surname: Morgan fullname: Morgan, Joanne E organization: Leeds Institute of Biomedical and Clinical Science, St. James's University Hospital – sequence: 21 givenname: Helen surname: Roper fullname: Roper, Helen organization: Department of Paediatrics, Birmingham Heartlands Hospital – sequence: 22 givenname: Gijs W E surname: Santen fullname: Santen, Gijs W E organization: Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center – sequence: 23 givenname: Erik H orcidid: 0000-0001-5892-5143 surname: Niks fullname: Niks, Erik H organization: Department of Neurology, Leiden University Medical Center – sequence: 24 givenname: W Ludo surname: van der Pol fullname: van der Pol, W Ludo organization: Department of Neurology and Neurosurgery, Brain Center Rudolf Magnus, University Medical Center Utrecht – sequence: 25 givenname: Dick orcidid: 0000-0001-9580-624X surname: Lindhout fullname: Lindhout, Dick organization: Department of Medical Genetics, University Medical Center Utrecht – sequence: 26 givenname: Anna surname: Raffaello fullname: Raffaello, Anna organization: Department of Biomedical Sciences, University of Padua and Consiglio Nazionale delle Ricerche Neuroscience Institute – sequence: 27 givenname: Diego orcidid: 0000-0003-3796-8907 surname: De Stefani fullname: De Stefani, Diego organization: Department of Biomedical Sciences, University of Padua and Consiglio Nazionale delle Ricerche Neuroscience Institute – sequence: 28 givenname: Johan T surname: den Dunnen fullname: den Dunnen, Johan T organization: Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center – sequence: 29 givenname: Yu surname: Sun fullname: Sun, Yu organization: Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center – sequence: 30 givenname: Ieke surname: Ginjaar fullname: Ginjaar, Ieke organization: Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center – sequence: 31 givenname: Caroline A surname: Sewry fullname: Sewry, Caroline A organization: UCL Institute of Child Health, Dubowitz Neuromuscular Centre and Medical Research Council (MRC) Centre for Neuromuscular Diseases, Wolfson Centre for Inherited Neuromuscular Diseases, Robert Jones & Agnes Hunt Orthopaedic Hospital – sequence: 32 givenname: Matthew surname: Hurles fullname: Hurles, Matthew organization: Wellcome Trust Sanger Institute – sequence: 33 givenname: Rosario surname: Rizzuto fullname: Rizzuto, Rosario organization: Department of Biomedical Sciences, University of Padua and Consiglio Nazionale delle Ricerche Neuroscience Institute – sequence: 35 givenname: Michael R orcidid: 0000-0003-2548-4294 surname: Duchen fullname: Duchen, Michael R email: m.duchen@ucl.ac.uk organization: Department of Cell and Developmental Biology, Consortium for Mitochondrial Research, University College London (UCL) – sequence: 36 givenname: Francesco surname: Muntoni fullname: Muntoni, Francesco email: f.muntoni@ucl.ac.uk organization: UCL Institute of Child Health, Dubowitz Neuromuscular Centre and Medical Research Council (MRC) Centre for Neuromuscular Diseases – sequence: 37 givenname: Eamonn surname: Sheridan fullname: Sheridan, Eamonn email: e.sheridan@leeds.ac.uk organization: Leeds Institute of Biomedical and Clinical Science, St. James's University Hospital |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/24336167$$D View this record in MEDLINE/PubMed |
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| Snippet | Michael Duchen, Francesco Muntoni, Eamonn Sheridan and colleagues show that loss-of-function mutations in
MICU1
cause a recessive disorder characterized by... Mitochondrial Ca(2+) uptake has key roles in cell life and death. Physiological Ca(2+) signaling regulates aerobic metabolism, whereas pathological Ca(2+)... Mitochondrial [Ca.sup.2+] uptake has key roles in cell life and death. Physiological [Ca.sup.2+] signaling regulates aerobic metabolism, whereas pathological... Mitochondrial Ca^sup 2+^ uptake has key roles in cell life and death. Physiological Ca^sup 2+^ signaling regulates aerobic metabolism, whereas pathological... Mitochondrial Ca super(2+) uptake has key roles in cell life and death. Physiological Ca super(2+) signaling regulates aerobic metabolism, whereas pathological... |
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| Title | Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling |
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