Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the cl...
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| Published in | American journal of human genetics Vol. 99; no. 3; pp. 753 - 761 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article Web Resource |
| Language | English |
| Published |
United States
Elsevier Inc
01.09.2016
Cell Press Elsevier (Cell Press) University of Chicago Press Elsevier |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0002-9297 1537-6605 1537-6605 |
| DOI | 10.1016/j.ajhg.2016.06.033 |
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| Abstract | The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the clinical hallmark. Whole-exome sequencing and Sanger sequencing in six unrelated families identified compound heterozygous and homozygous mutations in SLC5A7 encoding the presynaptic sodium-dependent high-affinity choline transporter 1 (CHT), which is known to be mutated in one dominant form of distal motor neuronopathy (DHMN7A). We identified 11 recessive mutations in SLC5A7 that were associated with a spectrum of severe muscle weakness ranging from a lethal antenatal form of arthrogryposis and severe hypotonia to a neonatal form of CMS with episodic apnea and a favorable prognosis when well managed at the clinical level. As expected given the critical role of CHT for multisystemic cholinergic neurotransmission, autonomic dysfunctions were reported in the antenatal form and cognitive impairment was noticed in half of the persons with the neonatal form. The missense mutations induced a near complete loss of function of CHT activity in cell models. At the human NMJ, a delay in synaptic maturation and an altered maintenance were observed in the antenatal and neonatal forms, respectively. Increased synaptic expression of butyrylcholinesterase was also observed, exposing the dysfunction of cholinergic metabolism when CHT is deficient in vivo. This work broadens the clinical spectrum of human diseases resulting from reduced CHT activity and highlights the complexity of cholinergic metabolism at the synapse. |
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| AbstractList | The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMS5), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the clinical hallmark. Whole-exome sequencing and Sanger sequencing in six unrelated families identified compound heterozygous and homozygous mutations in SLC5A7 encoding the presynaptic sodium-dependent high-affinity choline transporter 1 (CHT), which is known to be mutated in one dominant form of distal motor neuronopathy (DHMN7A). We identified 11 recessive mutations in SLC5A7 that were associated with a spectrum of severe muscle weakness ranging from a lethal antenatal form of arthrogryposis and severe hypotonia to a neonatal form of CMS with episodic apnea and a favorable prognosis when well managed at the clinical level. As expected given the critical role of CHT for multisystemic cholinergic neurotransmission, autonomic dysfunctions were reported in the antenatal form and cognitive impairment was noticed in half of the persons with the neonatal form. The missense mutations induced a near complete loss of function of CHT activity in cell models. At the human NMJ, a delay in synaptic maturation and an altered maintenance were observed in the antenatal and neonatal forms, respectively. Increased synaptic expression of butyrylcholinesterase was also observed, exposing the dysfunction of cholinergic metabolism when CHT is deficient in vivo. This work broadens the clinical spectrum of human diseases resulting from reduced CHT activity and highlights the complexity of cholinergic metabolism at the synapse. The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the clinical hallmark. Whole-exome sequencing and Sanger sequencing in six unrelated families identified compound heterozygous and homozygous mutations in SLC5A7 encoding the presynaptic sodium-dependent high-affinity choline transporter 1 (CHT), which is known to be mutated in one dominant form of distal motor neuronopathy (DHMN7A). We identified 11 recessive mutations in SLC5A7 that were associated with a spectrum of severe muscle weakness ranging from a lethal antenatal form of arthrogryposis and severe hypotonia to a neonatal form of CMS with episodic apnea and a favorable prognosis when well managed at the clinical level. As expected given the critical role of CHT for multisystemic cholinergic neurotransmission, autonomic dysfunctions were reported in the antenatal form and cognitive impairment was noticed in half of the persons with the neonatal form. The missense mutations induced a near complete loss of function of CHT activity in cell models. At the human NMJ, a delay in synaptic maturation and an altered maintenance were observed in the antenatal and neonatal forms, respectively. Increased synaptic expression of butyrylcholinesterase was also observed, exposing the dysfunction of cholinergic metabolism when CHT is deficient in vivo. This work broadens the clinical spectrum of human diseases resulting from reduced CHT activity and highlights the complexity of cholinergic metabolism at the synapse. The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the clinical hallmark. Whole-exome sequencing and Sanger sequencing in six unrelated families identified compound heterozygous and homozygous mutations in SLC5A7 encoding the presynaptic sodium-dependent high-affinity choline transporter 1 (CHT), which is known to be mutated in one dominant form of distal motor neuronopathy (DHMN7A). We identified 11 recessive mutations in SLC5A7 that were associated with a spectrum of severe muscle weakness ranging from a lethal antenatal form of arthrogryposis and severe hypotonia to a neonatal form of CMS with episodic apnea and a favorable prognosis when well managed at the clinical level. As expected given the critical role of CHT for multisystemic cholinergic neurotransmission, autonomic dysfunctions were reported in the antenatal form and cognitive impairment was noticed in half of the persons with the neonatal form. The missense mutations induced a near complete loss of function of CHT activity in cell models. At the human NMJ, a delay in synaptic maturation and an altered maintenance were observed in the antenatal and neonatal forms, respectively. Increased synaptic expression of butyrylcholinesterase was also observed, exposing the dysfunction of cholinergic metabolism when CHT is deficient in vivo. This work broadens the clinical spectrum of human diseases resulting from reduced CHT activity and highlights the complexity of cholinergic metabolism at the synapse. The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the clinical hallmark. Whole-exome sequencing and Sanger sequencing in six unrelated families identified compound heterozygous and homozygous mutations in SLC5A7 encoding the presynaptic sodium-dependent high-affinity choline transporter 1 (CHT), which is known to be mutated in one dominant form of distal motor neuronopathy (DHMN7A). We identified 11 recessive mutations in SLC5A7 that were associated with a spectrum of severe muscle weakness ranging from a lethal antenatal form of arthrogryposis and severe hypotonia to a neonatal form of CMS with episodic apnea and a favorable prognosis when well managed at the clinical level. As expected given the critical role of CHT for multisystemic cholinergic neurotransmission, autonomic dysfunctions were reported in the antenatal form and cognitive impairment was noticed in half of the persons with the neonatal form. The missense mutations induced a near complete loss of function of CHT activity in cell models. At the human NMJ, a delay in synaptic maturation and an altered maintenance were observed in the antenatal and neonatal forms, respectively. Increased synaptic expression of butyrylcholinesterase was also observed, exposing the dysfunction of cholinergic metabolism when CHT is deficient in vivo. This work broadens the clinical spectrum of human diseases resulting from reduced CHT activity and highlights the complexity of cholinergic metabolism at the synapse. The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the clinical hallmark. Whole-exome sequencing and Sanger sequencing in six unrelated families identified compound heterozygous and homozygous mutations in SLC5A7 encoding the presynaptic sodium-dependent high-affinity choline transporter 1 (CHT), which is known to be mutated in one dominant form of distal motor neuronopathy (DHMN7A). We identified 11 recessive mutations in SLC5A7 that were associated with a spectrum of severe muscle weakness ranging from a lethal antenatal form of arthrogryposis and severe hypotonia to a neonatal form of CMS with episodic apnea and a favorable prognosis when well managed at the clinical level. As expected given the critical role of CHT for multisystemic cholinergic neurotransmission, autonomic dysfunctions were reported in the antenatal form and cognitive impairment was noticed in half of the persons with the neonatal form. The missense mutations induced a near complete loss of function of CHT activity in cell models. At the human NMJ, a delay in synaptic maturation and an altered maintenance were observed in the antenatal and neonatal forms, respectively. Increased synaptic expression of butyrylcholinesterase was also observed, exposing the dysfunction of cholinergic metabolism when CHT is deficient in vivo. This work broadens the clinical spectrum of human diseases resulting from reduced CHT activity and highlights the complexity of cholinergic metabolism at the synapse.The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the clinical hallmark. Whole-exome sequencing and Sanger sequencing in six unrelated families identified compound heterozygous and homozygous mutations in SLC5A7 encoding the presynaptic sodium-dependent high-affinity choline transporter 1 (CHT), which is known to be mutated in one dominant form of distal motor neuronopathy (DHMN7A). We identified 11 recessive mutations in SLC5A7 that were associated with a spectrum of severe muscle weakness ranging from a lethal antenatal form of arthrogryposis and severe hypotonia to a neonatal form of CMS with episodic apnea and a favorable prognosis when well managed at the clinical level. As expected given the critical role of CHT for multisystemic cholinergic neurotransmission, autonomic dysfunctions were reported in the antenatal form and cognitive impairment was noticed in half of the persons with the neonatal form. The missense mutations induced a near complete loss of function of CHT activity in cell models. At the human NMJ, a delay in synaptic maturation and an altered maintenance were observed in the antenatal and neonatal forms, respectively. Increased synaptic expression of butyrylcholinesterase was also observed, exposing the dysfunction of cholinergic metabolism when CHT is deficient in vivo. This work broadens the clinical spectrum of human diseases resulting from reduced CHT activity and highlights the complexity of cholinergic metabolism at the synapse. |
| Author | Astrea, Guja Lacène, Emmanuelle Burloiu, Carmen Magdalena Butoianu, Niculina Sandu, Carmen Mayer, Michèle Remerand, Ganaelle Strochlic, Laure O’Regan, Seana Desguerre, Isabelle Pebrel-Richard, Céline Ricci, Federica Deleuze, Jean-François Nicole, Sophie Topf, Ana Boland, Anne Eymard, Bruno Bonne, Gisèle Nelson, Isabelle Sternberg, Damien Servais, Laurent Nougues, Marie-Christine Mongini, Tiziana Lochmuller, Hanns McMacken, Grace Buon, Céline Bouzidi, Nassima Fontaine, Bertrand Bauché, Stéphanie El Chehadeh-Djebbar, Salima Brochier, Guy Azuma, Yoshiteru Laffargue, Fanny Fiorillo, Chiara Faivre, Laurence Duffourd, Yannis Laporte, Jocelyn Thevenon, Julien Lechner, Doris Bœuf, Benoit Romero, Norma Beaufrere, Anne-Marie |
| AuthorAffiliation | 4 Service de Génétique Médicale, Centre de référence Auvergne-Limousin, Neuropathies Périphériques Rares et Maladies Neuromusculaires, Centre Hospitalier Universitaire de Clermont-Ferrand, 63000 Clermont-Ferrand, France 10 Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France 12 Service de génétique médicale, Institut de génétique médicale d’Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, 67098 Strasbourg, France 16 Alexandru Obregia Clinical Hospital, sos Berceni 10-12, 041914 Bucharest, Romania 18 Centre de Référence des Maladies Neuromusculaires de l’Ouest Parisien, Hôpital Necker-Enfants Malades, 75743 Paris, France 15 Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, 56018 Pisa, Italy 19 Neuropédiatrie et Unité d’électrophysiologie clinique, Centre de Référence des Maladies Neuromusculaires de l’EST parisien et DHU |
| AuthorAffiliation_xml | – name: 11 Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l’Inter-région Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France – name: 13 Center for Neuromuscular Diseases, Child Neurology and Psychiatry Unit, Regina Margherita Children Hospital, and Department of Neurosciences, University of Torino, 10124 Torino, Italy – name: 22 Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 67000 Strasbourg, France – name: 2 Membrane transport group, Neurophotonics Laboratory, CNRS UMR8250, Sorbonne Paris Cité-Paris Descartes University, 75005 Paris, France – name: 3 The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK – name: 6 Unité de pathologies neuromusculaires, Institut de Myologie, Sorbonne Universités, UPMC Université Paris 06 UMRS 974, Inserm U974, CNRS UMR 7215, 75013 Paris, France – name: 14 Molecular Medicine, IRCCS Fondazione Stella Maris, Calambrone, 56018 Pisa, Italy – name: 10 Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France – name: 15 Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, 56018 Pisa, Italy – name: 4 Service de Génétique Médicale, Centre de référence Auvergne-Limousin, Neuropathies Périphériques Rares et Maladies Neuromusculaires, Centre Hospitalier Universitaire de Clermont-Ferrand, 63000 Clermont-Ferrand, France – name: 9 Service de Cytogénétique Médicale, Centre Hospitalier Universitaire de Clermont-Ferrand, 63000 Clermont-Ferrand, France – name: 17 Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center of Research in Myology, Myology Institute, 75013 Paris, France – name: 5 AP-HP, Hôpital Pitié-Salpêtrière, 75013 Paris, France – name: 20 Service de réanimation néonatale et pédiatrique Hôpital Estaing CHU de Clermont Ferrand, 63000 Clermont-Ferrand, France – name: 1 Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France – name: 21 Departement Médecine Translationnelle et Neurogénétique, Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, Inserm U 964, 67404 Illkirch, France – name: 18 Centre de Référence des Maladies Neuromusculaires de l’Ouest Parisien, Hôpital Necker-Enfants Malades, 75743 Paris, France – name: 23 Centre National de Génotypage (CNG), 91057 Evry, France – name: 12 Service de génétique médicale, Institut de génétique médicale d’Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, 67098 Strasbourg, France – name: 16 Alexandru Obregia Clinical Hospital, sos Berceni 10-12, 041914 Bucharest, Romania – name: 19 Neuropédiatrie et Unité d’électrophysiologie clinique, Centre de Référence des Maladies Neuromusculaires de l’EST parisien et DHU I2B, Hôpital d’Enfants Armand Trousseau, 75012 Paris, France – name: 7 Service de Néonatologie, Centre Hospitalier Universitaire de Clermont-Ferrand, 63000 Clermont-Ferrand, France – name: 8 Service d’Anatomie et Cytologie pathologiques, Centre Hospitalier Universitaire de Clermont-Ferrand, 63000 Clermont-Ferrand, France |
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Parkway, Newcastle upon Tyne NE1 3BZ, UK – sequence: 40 givenname: Bruno surname: Eymard fullname: Eymard, Bruno organization: Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France – sequence: 41 givenname: Michèle surname: Mayer fullname: Mayer, Michèle organization: Neuropédiatrie et Unité d’électrophysiologie clinique, Centre de Référence des Maladies Neuromusculaires de l’EST parisien et DHU I2B, Hôpital d’Enfants Armand Trousseau, 75012 Paris, France – sequence: 42 givenname: Sophie surname: Nicole fullname: Nicole, Sophie email: sophie.nicole@inserm.fr organization: Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France |
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| SubjectTerms | Adolescent Apnea - complications Apnea - genetics Apnea - metabolism Apnea - pathology Apnea/complications/genetics/metabolism/pathology Arthrogryposis - complications Arthrogryposis - genetics Arthrogryposis/complications/genetics Butyrylcholinesterase - metabolism Cells Child Child, Preschool Cholinergic Neurons - metabolism Cholinergic Neurons - pathology Cholinergic Neurons/metabolism/pathology Cognition & reasoning DNA Mutational Analysis Exome - genetics Female Genes, Recessive - genetics HEK293 Cells Heterozygote Homozygote Human health and pathology Human health sciences Humans Infant Infant, Newborn Life Sciences Male Metabolism Muscle Hypotonia - genetics Muscle Weakness - complications Muscle Weakness - genetics Muscle Weakness - pathology Muscle Weakness/complications/genetics/pathology Mutation Mutation - genetics Mutation, Missense - genetics Myasthenia Gravis - complications Myasthenia Gravis - genetics Myasthenia Gravis - metabolism Myasthenia Gravis - pathology Myasthenia Gravis/complications/genetics/metabolism/pathology Neuromuscular Junction - enzymology Neuromuscular Junction - metabolism Neuromuscular Junction - pathology Neuromuscular Junction/enzymology/metabolism/pathology Neurotransmitters Pediatrics Presynaptic Terminals - metabolism Presynaptic Terminals - pathology Presynaptic Terminals/metabolism/pathology Pédiatrie Sciences de la santé humaine Symporters - deficiency Symporters - genetics Symporters - metabolism Symporters/deficiency/genetics/metabolism Synaptic Transmission |
| Title | Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea |
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