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المؤلفون: Huajing You, Tengteng Wu, Gang Du, Yue Huang, Yixuan Zeng, Lishan Lin, Dingbang Chen, Chao Wu, Xunhua Li, Jean-marc Burgunder, Zhong Pei
المصدر: Frontiers in Neurology
Frontiers in Neurology, Vol 12 (2021)
You, Huajing; Wu, Tengteng; Du, Gang; Huang, Yue; Zeng, Yixuan; Lin, Lishan; Chen, Dingbang; Wu, Chao; Li, Xunhua; Burgunder, Jean-Marc; Pei, Zhong (2021). Evaluation of Blood Glial Fibrillary Acidic Protein as a Potential Marker in Huntington's Disease. Frontiers in neurology, 12, p. 779890. Frontiers Media S.A. 10.3389/fneur.2021.779890 <http://dx.doi.org/10.3389/fneur.2021.779890Test>مصطلحات موضوعية: medicine.medical_specialty, Neurofilament light, 610 Medicine & health, Disease, Gastroenterology, Huntington's disease, Internal medicine, medicine, Clinical severity, RC346-429, Motor score, Original Research, Word reading, neurofilament light protein, Glial fibrillary acidic protein, biology, business.industry, medicine.disease, Neurology, nervous system, glial fibrillary acidic protein, clinical severity, biology.protein, Biomarker (medicine), biomarker, Neurology (clinical), Neurology. Diseases of the nervous system, business
الوصف: Objective: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. Neurofilament light protein (NfL) is correlated with clinical severity of HD but relative data are the lack in the Chinese population. Reactive astrocytes are related to HD pathology, which predicts their potential to be a biomarker in HD progression. Our aim was to discuss the role of blood glial fibrillary acidic protein (GFAP) to evaluate clinical severity in patients with HD.Methods: Fifty-seven HD mutation carriers (15 premanifest HD, preHD, and 42 manifest HD) and 26 healthy controls were recruited. Demographic data and clinical severity assessed with the internationally Unified Huntington's Disease Rating Scale (UHDRS) were retrospectively analyzed. Plasma NfL and GFAP were quantified with an ultra-sensitive single-molecule (Simoa, Norcross, GA, USA) technology. We explored their consistency and their correlation with clinical severity.Results: Compared with healthy controls, plasma NfL (p < 0.0001) and GFAP (p < 0.001) were increased in Chinese HD mutation carriers, and they were linearly correlated with each other (r = 0.612, p < 0.001). They were also significantly correlated with disease burden, Total Motor Score (TMS) and Total Functional Capacity (TFC). The scores of Stroop word reading, symbol digit modalities tests, and short version of the Problem Behaviors Assessments (PBAs) for HD were correlated with plasma NfL but not GFAP. Compared with healthy controls, plasma NfL has been increased since stage 1 but plasma GFAP began to increase statistically in stage 2.Conclusions: Plasma GFAP was correlated with plasma NfL, disease burden, TMS, and TFC in HD mutation carriers. Plasma GFAP may have potential to be a sensitive biomarker for evaluating HD progression.
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48b4432e699acac04c598c74cc483beaTest
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المؤلفون: Michel Fardeau, Shari Fallet, Silvia Torelli, Norma B. Romero, C Pollitt, Gillian Storey, Caroline Sewry, Paola Prandini, Rumaisa Bashir, Thomas Voit, Derek J. Blake, Louise V.B. Anderson, Kate Bushby, Susan C. Brown, Volker Straub, Y Yuva, Isabelle Richard, Francesco Muntoni, Ralf Herrmann, Matthew A. Benson, Jean-Marc Burgunder, Martin Brockington
المصدر: Brockington, Martin; Yuva, Yeliz; Prandini, Paola; Brown, Susan C.; Torelli, Silvia; Benson, Matthew A.; Herrmann, Ralf; Anderson, Louise V.B.; Bashir, Rumaisa; Burgunder, Jean-Marc; Fallet, Shari; Romero, Norma; Fardeau, Michel; Straub, Volker; Storey, Gillian; Pollitt, Christine; Richard, Isabelle; Sewry, Caroline A.; Bushby, Kate; Voit, Thomas; ... (2001). Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Human molecular genetics, 10(25), pp. 2851-2859. Oxford University Press 10.1093/hmg/10.25.2851 <http://dx.doi.org/10.1093/hmg/10.25.2851Test>
مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, Genetic Linkage, Blotting, Western, 610 Medicine & health, Polymerase Chain Reaction, Muscular Dystrophies, Muscle hypertrophy, Immunoenzyme Techniques, Fukuyama congenital muscular dystrophy, Genetics, medicine, Humans, Pentosyltransferases, Age of Onset, Muscular dystrophy, Child, Dystroglycans, Walker–Warburg syndrome, Molecular Biology, Genetics (clinical), DNA Primers, Membrane Glycoproteins, Fukutin-related protein, biology, Calpain, Infant, Proteins, General Medicine, Middle Aged, medicine.disease, Fukutin, Pedigree, Cytoskeletal Proteins, Phenotype, Haplotypes, Child, Preschool, Mutation, biology.protein, Congenital muscular dystrophy, Female, Laminin, Chromosomes, Human, Pair 19, Microsatellite Repeats, Limb-girdle muscular dystrophy
الوصف: The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakness and dystrophic muscle changes. The onset of symptoms in CMD is within the first few months of life, whereas in LGMD they can occur in late childhood, adolescence or adult life. We have recently demonstrated that the fukutin-related protein gene (FKRP) is mutated in a severe form of CMD (MDC1C), characterized by the inability to walk, leg muscle hypertrophy and a secondary deficiency of laminin alpha2 and alpha-dystroglycan. Both MDC1C and LGMD2I map to an identical region on chromosome 19q13.3. To investigate whether these are allelic disorders, we undertook mutation analysis of FKRP in 25 potential LGMD2I families, including some with a severe and early onset phenotype. Mutations were identified in individuals from 17 families. A variable reduction of alpha-dystroglycan expression was observed in the skeletal muscle biopsy of all individuals studied. In addition, several cases showed a deficiency of laminin alpha2 either by immunocytochemistry or western blotting. Unexpectedly, affected individuals from 15 families had an identical C826A (Leu276Ileu) mutation, including five that were homozygous for this change. Linkage analysis identified at least two possible haplotypes in linkage disequilibrium with this mutation. Patients with the C826A change had the clinically less severe LGMD2I phenotype, suggesting that this is a less disruptive FKRP mutation than those found in MDC1C. The spectrum of LGMD2I phenotypes ranged from infants with an early presentation and a Duchenne-like disease course including cardiomyopathy, to milder phenotypes compatible with a favourable long-term outcome.
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8637abdd8a7da6e9a9ecb905ca82f74cTest
http://doc.rero.ch/record/297949/files/dde309.pdfTest -
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المؤلفون: Lie Chen, Jean-Marc Burgunder
المصدر: Cell Biology International. 29:506-513
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Utrophin, Sarcoplasm, Cell Culture Techniques, Fluorescent Antibody Technique, Dystrophin, Dystrophin-associated protein complex, Dystroglycan, medicine, Humans, Protein Isoforms, Dystroglycans, Muscle, Skeletal, Sarcolemma, biology, Skeletal muscle, Cell Differentiation, Cell Biology, General Medicine, musculoskeletal system, Clone Cells, medicine.anatomical_structure, Biochemistry, biology.protein, Pikachurin, Laminin
الوصف: The alpha-subunit of dystroglycan, a member of the dystrophin associated protein complex, binds to extracellular laminin-alpha2, while its beta-subunit interacts with cytoskeletal dystrophin. The exact biological role of dystroglycan, especially during human skeletal muscle development, has not been fully explored. Here, we analysed the distribution and expression characteristics of both dystroglycan subunits and laminin-alpha2 in primary human skeletal muscle cells. During development, expression levels of all three proteins increased with differentiation. The proteins were relocated from the sarcoplasm to the sarcolemma. The size of alpha-dystroglycan decreased from 150-220 kDa at the proliferation stage to 100-120 kDa at the late developmental stage. Both alpha- and beta-dystroglycan were involved in forming a complex with their respective partners laminin-alpha2 and dystrophin/utrophin. Our data show that, during development, cells may employ tightly regulated post-translational species-specific modification to produce different isoforms of alpha-dystroglycan to participate in appropriate functions.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5115e085c6a4c0d704f143e45f9e9837Test
https://doi.org/10.1016/j.cellbi.2005.01.009Test -
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المصدر: Experimental Neurology. 193:234-237
مصطلحات موضوعية: Rats, Sprague-Dawley, Lesion, Parkinsonian Disorders, Developmental Neuroscience, Dopamine, Basal ganglia, medicine, Animals, skin and connective tissue diseases, biology, Motor Cortex, Rats, Subthalamic nucleus, Parvalbumins, medicine.anatomical_structure, Gene Expression Regulation, nervous system, Neurology, biology.protein, GABAergic, Female, sense organs, Primary motor cortex, medicine.symptom, Neuroscience, Parvalbumin, medicine.drug, Motor cortex
الوصف: Dopamine deficiency in Parkinson's disease leads to numerous molecular changes in basal ganglia. However, the consequences of these changes on the motor cortex remain unclear. Here we show that the immunoreactivity of parvalbumin, which is expressed in GABAergic interneurons, increases in the primary motor cortex of parkinsonian rats. This increase can be reversed by a subsequent lesion of the subthalamic nucleus. These results suggest that dopamine deficiency induces reversible changes in GABAergic cortical cells, which might be linked with parkinsonian symptoms.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30ae995ea176ca8003cfb7243c9c5a30Test
https://doi.org/10.1016/j.expneurol.2004.12.007Test -
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المؤلفون: A. Von Fellenberg, Jean-Marc Burgunder, S. Lin
المصدر: Neuropathology and Applied Neurobiology. 30:255-266
مصطلحات موضوعية: Denervation, Muscle Denervation, Pathology, medicine.medical_specialty, Histology, Sarcolemma, biology, Colocalization, Pathology and Forensic Medicine, Cell biology, Neurology, Physiology (medical), Gene expression, Myosin, biology.protein, medicine, Desmin, Neurology (clinical), Dystrophin
الوصف: Dystrophin and associated proteins form a complex with an important role at the sarcolemma. Expression of this protein complex is highly regulated during development and regeneration. In order to better understand assembling patterns of these proteins, we have studied their expression in targetoid-like phenomena found in human muscle after chronic denervation, a situation known to give rise to abnormal protein trafficking. In eight biopsies of patients with chronic denervation, mainly resulting from amyotrophic lateral sclerosis, we found a number of targetoid phenomena. Selective accumulation of a number of sarcolemmal and sarcoplasmatic proteins occurred in targetoid phenomena. The larger majority of them contained gamma-sarcoglycan (gammaSG), but none contained the developmental heavy chain myosin isoform. In a series of 166 targetoid phenomena which could be studied with 17 different antibodies recognizing sarcolemmal and cytoplasmatic proteins, a high level of colocalization of gammaSG with desmin and alpha-actinin was found. Colocalization rate was much lower with other proteins, including other members of the dystrophin-associated protein complex. These data show that selective changes in expression of otherwise closely related proteins occur during disturbed trafficking leading to target formation. Because members of the dystrophin-associated protein complex do not accumulate in a similar fashion within targets, we suggest that a complex molecular control of gene expression and trafficking of this complex is involved after chronic muscle denervation.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::99fb42758e434c8554582a0bef523a4eTest
https://doi.org/10.1046/j.0305-1846.2004.00529.xTest -
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المؤلفون: Jean-Marc Burgunder, How-Lung Eng, Wei Cheng, Jing Tian, Walter Hunziker
المصدر: PLoS ONE, Vol 9, Iss 8, p e103445 (2014)
PLoS ONEمصطلحات موضوعية: Movement disorders, Gene Expression, lcsh:Medicine, medicine.disease_cause, Biochemistry, Ion Channels, Animals, Genetically Modified, Gene Order, Medicine and Health Sciences, lcsh:Science, Zebrafish, Musculoskeletal System, Genetics, Mutation, Multidisciplinary, Movement Disorders, biology, Muscles, Fishes, Neurodegenerative Diseases, Animal Models, Phenotype, Cell biology, Biomechanical Phenomena, Neurology, Osteichthyes, Vertebrates, medicine.symptom, Anatomy, Locomotion, Research Article, musculoskeletal diseases, Myotonia Congenita, Recombinant Fusion Proteins, Genetic Vectors, Muscle disorder, Research and Analysis Methods, Muscle Fibers, Model Organisms, Chloride Channels, medicine, Animals, Humans, Actin, Swimming, CLCN1, Myotonia congenita, lcsh:R, Organisms, Biology and Life Sciences, Proteins, biology.organism_classification, medicine.disease, Actins, Disease Models, Animal, biology.protein, lcsh:Q
الوصف: Myotonia congenita is a human muscle disorder caused by mutations in CLCN1, which encodes human chloride channel 1 (CLCN1). Zebrafish is becoming an increasingly useful model for human diseases, including muscle disorders. In this study, we generated transgenic zebrafish expressing, under the control of a muscle specific promoter, human CLCN1 carrying mutations that have been identified in human patients suffering from myotonia congenita. We developed video analytic tools that are able to provide precise quantitative measurements of movement abnormalities in order to analyse the effect of these CLCN1 mutations on adult transgenic zebrafish swimming. Two new parameters for body-wave kinematics of swimming reveal changes in body curvature and tail offset in transgenic zebrafish expressing the disease-associated CLCN1 mutants, presumably due to their effect on muscle function. The capability of the developed video analytic tool to distinguish wild-type from transgenic zebrafish could provide a useful asset to screen for compounds that reverse the disease phenotype, and may be applicable to other movement disorders besides myotonia congenita.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9e0505057d2bc6319fc228eb055a6c7Test
http://europepmc.org/articles/PMC4118878?pdf=renderTest -
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المؤلفون: Li-Yen Lee, Akhlaq A. Farooqui, Gavin S. Dawe, Wei-Yi Ong, Jean-Marc Burgunder
المصدر: Neuroscience Letters. 453:6-8
مصطلحات موضوعية: Male, Reflex, Startle, medicine.medical_specialty, Phospholipase A2 Inhibitors, Striatum, Phospholipase A2, Internal medicine, Moro reflex, medicine, Animals, Enzyme Inhibitors, Rats, Wistar, Prepulse inhibition, Analysis of Variance, Phospholipase A, biology, Chemistry, General Neuroscience, Oligonucleotides, Antisense, Startle reaction, Rats, Phospholipases A2, Endocrinology, Acoustic Stimulation, Quinacrine, Acoustic Startle Reflex, Phospholipases A2, Calcium-Independent, Reflex, biology.protein, Neuroscience
الوصف: High levels of calcium-independent phospholipase A(2) (iPLA(2)) are present in the striatum and cerebral cortex [W.Y. Ong, J.F. Yeo, S.F. Ling, A.A. Farooqui, Distribution of calcium-independent phospholipase A(2) (iPLA(2)) in monkey brain, J. Neurocytol. 34 (2005) 447-458], and several clinical investigations have suggested a possible role of altered iPLA(2) activity in neurodegenerative and psychiatric disorders. The present study was carried out to elucidate a possible effect of PLA(2) on prepulse inhibition (PPI) of the acoustic startle reflex. Rats that received intraperitoneal injection of the non-specific PLA(2) inhibitor, quinacrine, showed significantly decreased PPI at 76, 80, and 84dB, compared to saline injected controls. In addition, rats that received intrastriatal injection of antisense oligonucleotide to iPLA(2) showed significant reduction in PPI at prepulse intensities of 76 and 84dB compared to scrambled sense injected controls. Together, these findings point to a role of PLA(2) in PPI of the auditory startle reflex and sensorimotor gating.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd83756bcd4d5c25bafaaa498dab49c8Test
https://doi.org/10.1016/j.neulet.2009.01.069Test -
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المؤلفون: Cong-Xia Lu, Qi-Lin Ma, Xiao-Rong Zhang, Jean-Marc Burgunder, Qing Lin, Xingkai An, Hongli Qu
المصدر: Neuroscience letters. 549
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, China, Genotype, Aura, Migraine Disorders, Gastroenterology, Polymorphism, Single Nucleotide, Asian People, Gene Frequency, Polymorphism (computer science), Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Allele, Allele frequency, Lymphotoxin-alpha, Monoamine Oxidase, Alleles, Genetic Association Studies, Methylenetetrahydrofolate Reductase (NADPH2), Genetics, biology, business.industry, General Neuroscience, Middle Aged, medicine.disease, Migraine with aura, Migraine, Methylenetetrahydrofolate reductase, Case-Control Studies, biology.protein, Female, medicine.symptom, business
الوصف: A number of genes have been implicated in the pathogenesis of migraine, a common neurological disorder also in China. However, data on association of genetic variations with migraine susceptibility among Chinese, which might be different from people of other ethnic background, are still scarce. We have therefore investigated the association of polymorphisms in four genes, MTHFR C677T, ACE I/D, MAOA T941G and TNF-β G252A, which are considered to be with risk of migraine. A case-control study including a cohort of 151 migraine cases and 137 ethnically matched controls was conducted. The genotypes of each polymorphism followed the Hardy-Weinberg equilibrium in the two groups. Genotypic distribution of MTHFR C677T was significantly different with higher frequency of allele T in the migraine cohort as compared with that in controls (OR=1.686, 95%CI: 1.175-2.420, P=0.004). No difference was found between migraine with aura (MA) patients and controls, but T allele frequency was significantly higher in migraine without aura (MO) than in controls (OR=1.744, 95% CI: 1.202-2.532, P=0.003). No difference in genotypic and allelic distributions was observed between migraine patients and controls for the other polymorphisms, including ACE I/D, MAOA T941G, and TNF-β G252A. Our data suggested that MTHFR C677T polymorphism plays a role in Chinese migraine susceptibility, especially in MO.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::760e5c59d44a69308955935743312675Test
https://pubmed.ncbi.nlm.nih.gov/23811028Test -
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المؤلفون: Kai M. Rösler, Séverine Petitprez, Lie Chen, Liliane Kappeler, D Schorderet, Hugues Abriel, Jean-Marc Burgunder, L Tiab
المصدر: Neurology. 71(21)
مصطلحات موضوعية: medicine.medical_specialty, Nav1.4, DNA Mutational Analysis, Transfection, Sodium Channels, Cell Line, Membrane Potentials, Myotonia, Internal medicine, medicine, Humans, Hyperkalemic periodic paralysis, Patch clamp, Isoleucine, NAV1.4 Voltage-Gated Sodium Channel, Membrane potential, Family Health, biology, Sodium channel, Valine, medicine.disease, Cell biology, Transmembrane domain, Protein Subunits, Endocrinology, Paramyotonia congenita, Mutation, biology.protein, Female, Neurology (clinical)
الوصف: Background: Mutations in SCN4A may lead to myotonia. Methods: Presentation of a large family with myotonia, including molecular studies and patch clamp experiments using human embryonic kidney 293 cells expressing wild-type and mutated channels. Results: In a large family with historic data on seven generations and a clear phenotype, including myotonia at movement onset, with worsening by cold temperature, pregnancy, mental stress, and especially after rest after intense physical activity, but without weakness, the phenotype was linked with the muscle sodium channel gene ( SCN4A ) locus, in which a novel p.I141V mutation was found. This modification is located within the first transmembrane segment of domain I of the Na v 1.4 α subunit, a region where no mutation has been reported so far. Patch clamp experiments revealed a mutation-induced hyperpolarizing shift (−12.9 mV) of the voltage dependence of activation, leading to a significant increase (approximately twofold) of the window current amplitude. In addition, the mutation shifted the voltage dependence of slow inactivation by −8.7 mV and accelerated the entry to this state. Conclusions: We propose that the gain-of-function alteration in activation leads to the observed myotonic phenotype, whereas the enhanced slow inactivation may prevent depolarization-induced paralysis.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::677b1aeb0f489949f8a9ef705e45ab19Test
https://pubmed.ncbi.nlm.nih.gov/19015483Test -
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المؤلفون: Benjamin K.C. Ong, Raymond C.S. Seet, Roland Baur, Chew Soh Eng, Shang Huifang, Erle C.H. Lim, Walter Hunziker, Pascal Béguin, Erwin Sigel, Jean-Marc Burgunder
المصدر: Neuromuscular disorders : NMD. 18(8)
مصطلحات موضوعية: musculoskeletal diseases, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, China, DNA, Complementary, Adolescent, Xenopus, Pain, Biology, Compound heterozygosity, medicine.disease_cause, Myotonia, Variable features, Chloride Channels, Internal medicine, medicine, Animals, Humans, Muscle, Skeletal, Exercise, Genetics (clinical), Genetics, Neurologic Examination, CLCN1, Mutation, Myotonia congenita, Electromyography, Reverse Transcriptase Polymerase Chain Reaction, medicine.disease, biology.organism_classification, Electrophysiology, Endocrinology, Neurology, Pediatrics, Perinatology and Child Health, Chloride channel, biology.protein, Oocytes, Female, Neurology (clinical)
الوصف: We describe two Chinese families with a mild form of the myotonia congenita due to novel chloride channel (ClCN1) mutations. In one case, heterozygous I553F and H555N mutations were found. The patient shared the I553F mutation with his healthy father, and his mother had a history of mild myotonia when she was younger. In another family, autosomal dominant myotonia congenita was due to a L844F change. The physiological effects of the mutations were examined by using the two-electrode voltage-clamp technique after expression of the channels in Xenopus oocytes. All mutations drastically shifted the voltage required for half-maximal activation, more under conditions mimicking the homozygous situation, than under conditions mimicking the heterozygous situation. The larger effect was seen in the compound heterozygous situation combining the I553F and the H555N mutations. Our data suggest that myotonia congenita caused by CLCN1 mutations in Chinese have similar variable features to those found in the West.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0c2fdf4dfca35d7248e8e99f8ec0c33Test
https://pubmed.ncbi.nlm.nih.gov/18579381Test
