Developmental Disabilities Research Reviews最新文献_第7页

Complex I disorders: Causes, mechanisms, and development of treatment strategies at the cellular level 复杂I型疾病:细胞水平的病因、机制和治疗策略的发展

Developmental Disabilities Research Reviews Pub Date : 2010-08-27 DOI: 10.1002/ddrr.107

Federica Valsecchi, Werner J.H. Koopman, Ganesh R. Manjeri, Richard J. Rodenburg, Jan A.M. Smeitink, Peter H.G.M. Willems

引用次数: 56

Bacteria, yeast, worms, and flies: Exploiting simple model organisms to investigate human mitochondrial diseases 细菌，酵母，蠕虫和苍蝇:利用简单的模式生物来研究人类线粒体疾病

Developmental Disabilities Research Reviews Pub Date : 2010-08-27 DOI: 10.1002/ddrr.114

Shane L. Rea, Brett H. Graham, Eiko Nakamaru-Ogiso, Adwitiya Kar, Marni J. Falk

{"title":"Bacteria, yeast, worms, and flies: Exploiting simple model organisms to investigate human mitochondrial diseases","authors":"Shane L. Rea, Brett H. Graham, Eiko Nakamaru-Ogiso, Adwitiya Kar, Marni J. Falk","doi":"10.1002/ddrr.114","DOIUrl":"10.1002/ddrr.114","url":null,"abstract":"The extensive conservation of mitochondrial structure, composition, and function across evolution offers a unique opportunity to expand our understanding of human mitochondrial biology and disease. By investigating the biology of much simpler model organisms, it is often possible to answer questions that are unreachable at the clinical level. Here, we review the relative utility of four different model organisms, namely the bacterium Escherichia coli, the yeast Saccharomyces cerevisiae, the nematode Caenorhabditis elegans, and the fruit fly Drosophila melanogaster, in studying the role of mitochondrial proteins relevant to human disease. E. coli are single cell, prokaryotic bacteria that have proven to be a useful model system in which to investigate mitochondrial respiratory chain protein structure and function. S. cerevisiae is a single-celled eukaryote that can grow equally well by mitochondrial-dependent respiration or by ethanol fermentation, a property that has proven to be a veritable boon for investigating mitochondrial functionality. C. elegans is a multicellular, microscopic worm that is organized into five major tissues and has proven to be a robust model animal for in vitro and in vivo studies of primary respiratory chain dysfunction and its potential therapies in humans. Studied for over a century, D. melanogaster is a classic metazoan model system offering an abundance of genetic tools and reagents that facilitates investigations of mitochondrial biology using both forward and reverse genetics. The respective strengths and limitations of each species relative to mitochondrial studies are explored. In addition, an overview is provided of major discoveries made in mitochondrial biology in each of these four model systems. © 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:200–218.","PeriodicalId":55176,"journal":{"name":"Developmental Disabilities Research Reviews","volume":"16 2","pages":"200-218"},"PeriodicalIF":0.0,"publicationDate":"2010-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ddrr.114","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29287105","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: 61

The use of neuroimaging in the diagnosis of mitochondrial disease 神经影像学在线粒体疾病诊断中的应用

Developmental Disabilities Research Reviews Pub Date : 2010-08-27 DOI: 10.1002/ddrr.103

Seth D. Friedman, Dennis W. W. Shaw, Gisele Ishak, Andrea L. Gropman, Russell P. Saneto

{"title":"The use of neuroimaging in the diagnosis of mitochondrial disease","authors":"Seth D. Friedman, Dennis W. W. Shaw, Gisele Ishak, Andrea L. Gropman, Russell P. Saneto","doi":"10.1002/ddrr.103","DOIUrl":"10.1002/ddrr.103","url":null,"abstract":"Mutations in nuclear and mitochondrial DNA impacting mitochondrial function result in disease manifestations ranging from early death to abnormalities in all major organ systems and to symptoms that can be largely confined to muscle fatigue. The definitive diagnosis of a mitochondrial disorder can be difficult to establish. When the constellation of symptoms is suggestive of mitochondrial disease, neuroimaging features may be diagnostic and suggestive, can help direct further workup, and can help to further characterize the underlying brain abnormalities. Magnetic resonance imaging changes may be nonspecific, such as atrophy (both general and involving specific structures, such as cerebellum), more suggestive of particular disorders such as focal and often bilateral lesions confined to deep brain nuclei, or clearly characteristic of a given disorder such as stroke-like lesions that do not respect vascular boundaries in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode (MELAS). White matter hyperintensities with or without associated gray matter involvement may also be observed. Across patients and discrete disease subtypes (e.g., MELAS, Leigh syndrome, etc.), patterns of these features are helpful for diagnosis. However, it is also true that marked variability in expression occurs in all mitochondrial disease subtypes, illustrative of the complexity of the disease process. The present review summarizes the role of neuroimaging in the diagnosis and characterization of patients with suspected mitochondrial disease. © 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:129–135.","PeriodicalId":55176,"journal":{"name":"Developmental Disabilities Research Reviews","volume":"16 2","pages":"129-135"},"PeriodicalIF":0.0,"publicationDate":"2010-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ddrr.103","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29287702","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: 53

Coenzyme Q and mitochondrial disease 辅酶Q和线粒体疾病

Developmental Disabilities Research Reviews Pub Date : 2010-08-27 DOI: 10.1002/ddrr.108

Catarina M. Quinzii, Michio Hirano

{"title":"Coenzyme Q and mitochondrial disease","authors":"Catarina M. Quinzii, Michio Hirano","doi":"10.1002/ddrr.108","DOIUrl":"10.1002/ddrr.108","url":null,"abstract":"Coenzyme Q10 (CoQ10) is an essential electron carrier in the mitochondrial respiratory chain and an important antioxidant. Deficiency of CoQ10 is a clinically and molecularly heterogeneous syndrome, which, to date, has been found to be autosomal recessive in inheritance and generally responsive to CoQ10 supplementation. CoQ10 deficiency has been associated with five major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) cerebellar ataxia, (4) isolated myopathy, and (5) nephrotic syndrome. In a few patients, pathogenic mutations have been identified in genes involved in the biosynthesis of CoQ10 (primary CoQ10 deficiencies) or in genes not directly related to CoQ10 biosynthesis (secondary CoQ10 deficiencies). Respiratory chain defects, ROS production, and apoptosis contribute to the pathogenesis of primary CoQ10 deficiencies. In vitro and in vivo studies are necessary to further understand the pathogenesis of the disease and to develop more effective therapies. © 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:183–188.","PeriodicalId":55176,"journal":{"name":"Developmental Disabilities Research Reviews","volume":"16 2","pages":"183-188"},"PeriodicalIF":0.0,"publicationDate":"2010-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ddrr.108","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29287101","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: 174

Introduction: Emerging research in mitochondrial disease 介绍:线粒体疾病的新兴研究

Developmental Disabilities Research Reviews Pub Date : 2010-08-27 DOI: 10.1002/ddrr.111

Marni J. Falk

引用次数: 0

Pharmacologic effects on mitochondrial function 对线粒体功能的药理作用。

Developmental Disabilities Research Reviews Pub Date : 2010-08-27 DOI: 10.1002/ddrr.106

Bruce H. Cohen

{"title":"Pharmacologic effects on mitochondrial function","authors":"Bruce H. Cohen","doi":"10.1002/ddrr.106","DOIUrl":"10.1002/ddrr.106","url":null,"abstract":"The vast majority of energy necessary for cellular function is produced in mitochondria. Free-radical production and apoptosis are other critical mitochondrial functions. The complex structure, electrochemical properties of the inner mitochondrial membrane (IMM), and genetic control from both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) are some of the unique features that explain why the mitochondria are vulnerable to environmental injury. Because of similarity to bacterial translational machinery, mtDNA translation is likewise vulnerable to inhibition by some antibiotics. The mechanism of mtDNA replication, which is required for normal mitochondrial maintenance and duplication, is inhibited by a relatively new class of drugs used to treat AIDS. The electrochemical gradient maintained by the IMM is vulnerable to many drugs that are weak organic acids at physiological pH, resulting in excessive free-radical generation and uncoupling of oxidative phosphorylation. Many of these drugs can cause clinical injury in otherwise healthy people, but there are also examples where particular gene mutations may predispose to increased drug toxicity. The spectrum of drug-induced mitochondrial dysfunction extends across many drug classes. It is hoped that preclinical pharmacogenetic and functional studies of mitochondrial toxicity, along with personalized genomic medicine, will improve both our understanding of mitochondrial drug toxicity and patient safety. © 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:189–199.","PeriodicalId":55176,"journal":{"name":"Developmental Disabilities Research Reviews","volume":"16 2","pages":"189-199"},"PeriodicalIF":0.0,"publicationDate":"2010-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ddrr.106","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29287102","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: 53

Autism and mitochondrial disease 自闭症和线粒体疾病

Developmental Disabilities Research Reviews Pub Date : 2010-08-27 DOI: 10.1002/ddrr.112

Richard H. Haas

引用次数: 95

The neurologic manifestations of mitochondrial disease 线粒体疾病的神经学表现

Developmental Disabilities Research Reviews Pub Date : 2010-08-27 DOI: 10.1002/ddrr.110

Sumit Parikh

引用次数: 20

Emerging therapeutic approaches to mitochondrial diseases 线粒体疾病的新兴治疗方法

Developmental Disabilities Research Reviews Pub Date : 2010-08-27 DOI: 10.1002/ddrr.109

Tina Wenz, Sion L. Williams, Sandra R. Bacman, Carlos T. Moraes

引用次数: 37

Molecular genetics of mitochondrial disorders 线粒体疾病的分子遗传学

Developmental Disabilities Research Reviews Pub Date : 2010-08-27 DOI: 10.1002/ddrr.104

Lee-Jun C. Wong

{"title":"Molecular genetics of mitochondrial disorders","authors":"Lee-Jun C. Wong","doi":"10.1002/ddrr.104","DOIUrl":"10.1002/ddrr.104","url":null,"abstract":"Mitochondrial respiratory chain (RC) disorders (RCDs) are a group of genetically and clinically heterogeneous diseases because of the fact that protein components of the RC are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis, structure, and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear-encoded genes. In this review, primary molecular defects in the mitochondrial genome and major classes of nuclear genes causing mitochondrial RCDs, including genes underlying mitochondrial DNA (mtDNA) depletion syndrome, as well as genes encoding RC subunits, complex assembly genes, and translation factors, are described. Diagnostic methodologies used to detect common point mutations, large deletions, and unknown point mutations in the mtDNA and to quantify mutation heteroplasmy are also discussed. Finally, the selection of nuclear genes for gold standard sequence analysis, application of novel technologies including oligonucleotide array comparative genomic hybridization, and massive parallel sequencing of target genes are reviewed. © © 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:154–162.","PeriodicalId":55176,"journal":{"name":"Developmental Disabilities Research Reviews","volume":"16 2","pages":"154-162"},"PeriodicalIF":0.0,"publicationDate":"2010-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ddrr.104","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29287705","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: 73