Italian journal of neurological sciences最新文献

Exercise intolerance and the mitochondrial respiratory chain. 运动不耐受和线粒体呼吸链。

Italian journal of neurological sciences Pub Date : 1999-12-01 DOI: 10.1007/s100720050056

S DiMauro

{"title":"Exercise intolerance and the mitochondrial respiratory chain.","authors":"S DiMauro","doi":"10.1007/s100720050056","DOIUrl":"https://doi.org/10.1007/s100720050056","url":null,"abstract":"The syndrome of exercise intolerance, cramps, and myoglobinuria is a common presentation of metabolic myopathies and has been associated with several specific inborn errors of glycogen or lipid metabolism. As disorders in fuel utilization presumably impair muscle energy production, it was more than a little surprising that exercise intolerance and myoglobinuria had not been associated with defects in the mitochondrial respiratory chain, the terminal energy-yielding pathway. Recently, however, specific defects in complex I, complex III, and complex IV have been identified in patients with severe exercise intolerance with or without myoglobinuria. All patients were sporadic cases and all harbored mutations in protein-coding genes of muscle mtDNA, suggesting that these were somatic mutations not affecting the germ-line. Another respiratory chain defect, primary coenzyme Q10 (CoQ10) deficiency, also causes exercise intolerance and recurrent myoglobinuria, usually in conjunction with brain symptoms, such as seizures or cerebellar ataxia. Primary CoQ10 deficiency is probably due to mutations in nuclear gene(s) encoding enzymes involved in CoQ10 biosynthesis.","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 6","pages":"387-93"},"PeriodicalIF":0.0,"publicationDate":"1999-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s100720050056","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21775633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 26

How is muscle phenotype controlled by nerve activity? 神经活动如何控制肌肉表型?

Italian journal of neurological sciences Pub Date : 1999-12-01 DOI: 10.1007/s100720050060

S Schiaffino, M Murgia, A L Serrano, E Calabria, G Pallafacchina

引用次数: 27

The role of sphingolipids in the control of skeletal muscle function: a review. 鞘脂在骨骼肌功能控制中的作用综述。

Italian journal of neurological sciences Pub Date : 1999-12-01 DOI: 10.1007/s100720050062

R A Sabbadini, D Danieli-Betto, R Betto

{"title":"The role of sphingolipids in the control of skeletal muscle function: a review.","authors":"R A Sabbadini, D Danieli-Betto, R Betto","doi":"10.1007/s100720050062","DOIUrl":"https://doi.org/10.1007/s100720050062","url":null,"abstract":"In this review, potential roles for the endogenous sphingolipid, sphingosine, and its derivatives are described for muscle cells. Sphingosine modulates the function of important calcium channels in muscle, including the ryanodine receptor (RyR) calcium release channel of the sarcoplasmic reticulum (SR). Sphingosine blocks calcium release through the SR ryanodine receptor and reduces the activity of single skeletal muscle RyR channels reconstituted into planar lipid bilayers. Sphingosine-blocked calcium release is coincident with the inhibitory effects of sphingosine on [3H]ryanodine binding to the RyR. The sphingomyelin signal transduction pathway has also been identified in both skeletal and cardiac muscle. A neutral form of sphingomyelinase (nSMase) enzyme has been localized to the junctional transverse tubule membrane. The high turnover of the SMase is responsible for the production of ceramide and sphingosine. HPLC analyses indicate that significant resting levels of sphingosine are present in muscle tissue. A model of excitation-contraction coupling is presented suggesting a potential role for this endogenous sphingolipid in normal muscle function. Putative roles for sphingolipid mediators in skeletal muscle dysfunction are also discussed. We hypothesize that sphingosine plays important roles in malignant hyperthermia and during the development of muscle fatigue.","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 6","pages":"423-30"},"PeriodicalIF":0.0,"publicationDate":"1999-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s100720050062","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21776702","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 39

Playing with the sarcoplasmic reticulum with Giovanni. 和乔瓦尼一起玩肌浆网。

Italian journal of neurological sciences Pub Date : 1999-12-01 DOI: 10.1007/s100720050053

A Margreth

引用次数: 1

Mitochondria in muscle cell death. 肌肉细胞死亡中的线粒体

Italian journal of neurological sciences Pub Date : 1999-12-01 DOI: 10.1007/s100720050057

P Bernardi

{"title":"Mitochondria in muscle cell death.","authors":"P Bernardi","doi":"10.1007/s100720050057","DOIUrl":"10.1007/s100720050057","url":null,"abstract":"Mitochondria, the main source of energy for eukaryotic cells through oxidative phosphorylation, also play a key role in the pathways to cell death. The mode of cell death may be influenced by the availability of ATP, and its very occurrence may critically depend on release of mitochondrial proteins like cytochrome c, apoptosis-inducing factor and possibly caspases 3 and 9. Ca2+-dependent onset of the permeability transition, caused by opening of a cyclosporin A-sensitive pore modulated by cyclophilin D, may play a major role in cell death through ATP depletion, disruption of Ca2+ homeostasis, and release of specific mitochondrial proteins. Dysregulation of Ca2+ homeostasis, proteolysis and a decreased ability to cope with oxidative stress are involved in the pathogenesis of Duchenne's muscular dystrophy downstream of the genetic lesion, and mitochondria appear as likely targets that may amplify the initial insult resulting in the irreversible events leading to cell demise. My colleagues and I are studying the permeability transition in skeletal muscle mitochondria, and we are validating bupivacaine in a short-term model of muscle cell toxicity involving mitochondrial depolarization and pore opening as early events. Specific goals for the future are to further define the role of mitochondria in muscle cell death, with particular emphasis on the role of the permeability transition pore and cyclophilin D, and to develop and test drugs able to affect its course in model systems in vitro and in the mdx mouse, an animal model of Duchenne's muscular dystrophy.","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 6","pages":"395-400"},"PeriodicalIF":0.0,"publicationDate":"1999-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s100720050057","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21775634","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 46

Regulation of human muscle contraction at the cellular and molecular levels. 在细胞和分子水平上调节人体肌肉收缩。

Italian journal of neurological sciences Pub Date : 1999-12-01 DOI: 10.1007/s100720050061

L Larsson, P Höök, P Pircher

{"title":"Regulation of human muscle contraction at the cellular and molecular levels.","authors":"L Larsson, P Höök, P Pircher","doi":"10.1007/s100720050061","DOIUrl":"https://doi.org/10.1007/s100720050061","url":null,"abstract":"The rat is the most extensively characterized species with regard to regulation of muscle contraction and myofibrillar protein isoform expression, but there is reason to question whether results from small mammals, such as the rat, can be extrapolated directly to larger mammals, such as man. Studies of human muscle contraction have primarily used different in vivo muscle function measurements, i.e. measurements of force at different speeds of movement during electrical stimulation or voluntary activation. These measurements give important information on overall muscle function, but they are of limited value for our understanding of regulation of muscle contraction. In basic science, cellular- and molecular-physiological methods have been used for many years, but these techniques have so far only rarely been used in studies of human muscle contraction. Detailed studies of human muscle contraction can be performed in the short muscle fibre segments obtained by the percutaneous muscle biopsy technique both at the cellular and molecular level. The skinned fibre preparation in combination with a novel in vitro motility assay offers a unique possibility to investigate regulation of human muscle contraction at the cellular and molecular levels in the same muscle cell segment in both health and disease, i.e. in muscle cells characterized according to the type and amount of expressed myofibrillar protein isoforms.","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 6","pages":"413-22"},"PeriodicalIF":0.0,"publicationDate":"1999-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s100720050061","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21775637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 19

Nuclear gene defects in mitochondrial disorders. 线粒体疾病中的核基因缺陷。

Italian journal of neurological sciences Pub Date : 1999-12-01 DOI: 10.1007/s100720050059

M Zeviani, P Corona, L Nijtmans, V Tiranti

{"title":"Nuclear gene defects in mitochondrial disorders.","authors":"M Zeviani, P Corona, L Nijtmans, V Tiranti","doi":"10.1007/s100720050059","DOIUrl":"https://doi.org/10.1007/s100720050059","url":null,"abstract":"An increasing number of nuclear genes have been associated with abnormalities of oxidative phosphorylation and mitochondrial disorders. The protein products of these genes can be grouped into three categories: structural components of the respiratory chain, factors influencing the structural integrity or the copy number of mitochondrial DNA, and proteins which control the formation, assembly and turnover of the respiratory complexes. Loss-of-function mutations in SURF-1, a gene belonging to the third category, have been associated with Leigh syndrome with cytochrome c oxidase deficiency. Mature Surf-1 protein (Surf-1p) is a 30 kDa hydrophobic polypeptide whose function is still unknown. Using antibodies against human Surf-1p, we demonstrated that this protein is imported into mitochondria as a larger precursor. The same analysis revealed that no protein is present in cell lines harboring loss-of-function mutations of SURF-1, regardless of their type and position. We also generated several constructs with truncated or partially deleted SURF-1 cDNAs. None of these constructs, expressed into SURF-1 null mutant cells, were able to rescue the COX phenotype, suggesting that different regions of the protein are all essential for function. Finally, experiments based on 2D gel electrophoresis indicated that assembly of COX in SURF-1 null mutants is blocked at an early step, most likely before the incorporation of subunit II in the nascent intermediates composed of subunit I alone or subunit I plus subunit IV.","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 6","pages":"401-8"},"PeriodicalIF":0.0,"publicationDate":"1999-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s100720050059","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21775635","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 28

Functional roles of dystrophin and of associated proteins. New insights for the sarcoglycans. 肌营养不良蛋白及相关蛋白的功能作用。对肌聚糖的新认识。

Italian journal of neurological sciences Pub Date : 1999-12-01 DOI: 10.1007/s100720050054

R Betto, D Biral, D Sandonà

{"title":"Functional roles of dystrophin and of associated proteins. New insights for the sarcoglycans.","authors":"R Betto, D Biral, D Sandonà","doi":"10.1007/s100720050054","DOIUrl":"https://doi.org/10.1007/s100720050054","url":null,"abstract":"The discovery of the dystrophin gene, whose mutations lead to Duchenne's and Becker's muscular dystrophy (DMD and BMD), represents the first important landmark by which, in the last ten years, molecular biology and genetic studies have revealed many of the molecular defects of the major muscular dystrophies. Very rapidly, several studies revealed the presence at skeletal and cardiac muscle sarcolemma of a group of proteins associated to dystrophin. This includes a set of five transmembrane glycoproteins, the sarcoglycans, whose physiological role, however, is still poorly understood. Dystrophin and the associated proteins are believed to play an important role in membrane stability and maintenance during muscle contraction and relaxation. However, the absence of sarcoglycans from sarcolemma does not appear to affect membrane integrity suggesting that these components of the dystrophin complex are recipients of other important functions. This review deals with recent advances in the knowledge of sarcoglycan function and organization that may give important insights into the pathogenetic mechanisms of muscular dystrophies.","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 6","pages":"371-9"},"PeriodicalIF":0.0,"publicationDate":"1999-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s100720050054","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21775631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 21

Myopathies, cardiomyopathies, and heart transplantation: a tribute to Giovanni Salviati. 肌病、心肌病和心脏移植:向乔瓦尼·萨尔维亚蒂致敬。

Italian journal of neurological sciences Pub Date : 1999-12-01 DOI: 10.1007/s100720050055

L P Rowland

引用次数: 0

Volatile anesthetic action on muscle Ca2+ homeostasis. 挥发性麻醉对肌肉Ca2+稳态的作用。

Italian journal of neurological sciences Pub Date : 1999-12-01 DOI: 10.1007/s100720050063

T J Blanck

引用次数: 5