Current genetic medicine reports最新文献_第8页

Genetic Modifiers in Neurodegeneration. 神经变性的遗传修饰因子。

Current genetic medicine reports Pub Date : 2018-03-01 Epub Date: 2018-02-05 DOI: 10.1007/s40142-018-0133-1

Nimansha Jain, Alice S Chen-Plotkin

引用次数: 12

Mitochondria and Alzheimer's Disease: the Role of Mitochondrial Genetic Variation. 线粒体与阿尔茨海默病:线粒体遗传变异的作用。

Current genetic medicine reports Pub Date : 2018-01-01 Epub Date: 2018-03-01 DOI: 10.1007/s40142-018-0132-2

Perry G Ridge, John S K Kauwe

{"title":"Mitochondria and Alzheimer's Disease: the Role of Mitochondrial Genetic Variation.","authors":"Perry G Ridge, John S K Kauwe","doi":"10.1007/s40142-018-0132-2","DOIUrl":"https://doi.org/10.1007/s40142-018-0132-2","url":null,"abstract":"Purpose of review: Alzheimer's disease (AD) is the most common form of dementia, affects an increasing number of people worldwide, has a rapidly increasing incidence, and is fatal. In the past several years, significant progress has been made towards solving the genetic architecture of AD, but our understanding remains incomplete and has not led to treatments that either cure or slow disease. There is substantial evidence that mitochondria are involved in AD: mitochondrial functional declines in AD, mitochondrial encoded gene expression changes, mitochondria are morphologically different, and mitochondrial fusion/fission are modified. While a majority of mitochondrial proteins are nuclear encoded and could lead to malfunction in mitochondria, the mitochondrial genome encodes numerous proteins important for the electron transport chain, which if damaged could possibly lead to mitochondrial changes observed in AD. Here, we review publications that describe a relationship between the mitochondrial genome and AD and make suggestions for analysis approaches and data acquisition, from existing datasets, to study the mitochondrial genetics of AD.Recent findings: Numerous mitochondrial haplogroups and SNPs have been reported to influence risk for AD, but the majority of these have not been replicated, nor experimentally validated.Summary: The role of the mitochondrial genome in AD remains elusive, and several impediments exist to fully understand the relationship between the mitochondrial genome and AD. Yet, by leveraging existing datasets and implementing appropriate analysis approaches, determining the role of mitochondrial genetics in risk for AD is possible.","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"6 1","pages":"1-10"},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-018-0132-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35935873","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 44

A Brief Synopsis on the Genetics of Alzheimer's Disease. 阿尔茨海默病的遗传学简介。

Current genetic medicine reports Pub Date : 2018-01-01 Epub Date: 2018-10-30 DOI: 10.1007/s40142-018-0155-8

M Ilyas Kamboh

引用次数: 19

Using High-Throughput Animal or Cell-Based Models to Functionally Characterize GWAS Signals. 利用高通量动物模型或基于细胞的模型，从功能上描述 GWAS 信号。

IF 2.1

Current genetic medicine reports Pub Date : 2018-01-01 Epub Date: 2018-05-29 DOI: 10.1007/s40142-018-0141-1

Pierre Dourlen, Julien Chapuis, Jean-Charles Lambert

{"title":"Using High-Throughput Animal or Cell-Based Models to Functionally Characterize GWAS Signals.","authors":"Pierre Dourlen, Julien Chapuis, Jean-Charles Lambert","doi":"10.1007/s40142-018-0141-1","DOIUrl":"10.1007/s40142-018-0141-1","url":null,"abstract":"Purpose of review: The advent of genome-wide association studies (GWASs) constituted a breakthrough in our understanding of the genetic architecture of multifactorial diseases. For Alzheimer's disease (AD), more than 20 risk loci have been identified. However, we are now facing three new challenges: (i) identifying the functional SNP or SNPs in each locus, (ii) identifying the causal gene(s) in each locus, and (iii) understanding these genes' contribution to pathogenesis.Recent findings: To address these issues and thus functionally characterize GWAS signals, a number of high-throughput strategies have been implemented in cell-based and whole-animal models. Here, we review high-throughput screening, high-content screening, and the use of the Drosophila model (primarily with reference to AD).Summary: We describe how these strategies have been successfully used to functionally characterize the genes in GWAS-defined risk loci. In the future, these strategies should help to translate GWAS data into knowledge and treatments.","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"6 3","pages":"107-115"},"PeriodicalIF":2.1,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6096908/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36429916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Primary Open-Angle Glaucoma Genetics in African Americans. 非裔美国人原发性开角型青光眼遗传学。

Current genetic medicine reports Pub Date : 2017-12-01 DOI: 10.1007/s40142-017-0131-8

Nicole A Restrepo, Jessica N Cooke Bailey

引用次数: 14

Overarching Concepts and Mechanisms Affecting Phenotypes of Ocular Genetic Conditions 影响眼部遗传条件表型的总体概念和机制

IF 2.1

Current genetic medicine reports Pub Date : 2017-10-06 DOI: 10.1007/s40142-017-0128-3

H. Scanga, K. Nischal

引用次数: 0

Advances in the Understanding and Treatment of Mitochondrial Fatty Acid Oxidation Disorders. 线粒体脂肪酸氧化障碍的认识与治疗进展。

Current genetic medicine reports Pub Date : 2017-09-01 Epub Date: 2017-07-25 DOI: 10.1007/s40142-017-0125-6

Eric S Goetzman

{"title":"Advances in the Understanding and Treatment of Mitochondrial Fatty Acid Oxidation Disorders.","authors":"Eric S Goetzman","doi":"10.1007/s40142-017-0125-6","DOIUrl":"https://doi.org/10.1007/s40142-017-0125-6","url":null,"abstract":"Purpose of review: This review focuses on advances made in the past three years with regards to understanding the mitochondrial fatty acid oxidation (FAO) pathway, the pathophysiological ramifications of genetic lesions in FAO enzymes, and emerging therapies for FAO disorders.Recent findings: FAO has now been recognized to play a key energetic role in pulmonary surfactant synthesis, T-cell differentiation and memory, and the response of the proximal tubule to kidney injury. Patients with FAO disorders may face defects in these cellular systems as they age. Aspirin, statins, and nutritional supplements modulate the rate of FAO under normal conditions and could be risk factors for triggering symptoms in patients with FAO disorders. Patients have been identified with mutations in the ACAD9 and ECHS1 genes, which may represent new FAO disorders. New interventions for long-chain FAODs are in clinical trials. Finally, post-translational modifications that regulate fatty acid oxidation protein activities have been characterized that represent important new therapeutic targets.Summary: Recent research has led to a deeper understanding of FAO. New therapeutic avenues are being pursued that may ultimately cause a paradigm shift for patient care.","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"5 3","pages":"132-142"},"PeriodicalIF":0.0,"publicationDate":"2017-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-017-0125-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35640970","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 19

Human Genomics of Mycobacterium tuberculosis Infection and Disease. 结核分枝杆菌感染与疾病的人类基因组学。

Current genetic medicine reports Pub Date : 2017-09-01 Epub Date: 2017-07-25 DOI: 10.1007/s40142-017-0124-7

Marianna Orlova, Erwin Schurr

{"title":"Human Genomics of Mycobacterium tuberculosis Infection and Disease.","authors":"Marianna Orlova, Erwin Schurr","doi":"10.1007/s40142-017-0124-7","DOIUrl":"https://doi.org/10.1007/s40142-017-0124-7","url":null,"abstract":"Purpose of review: The study of the genetic basis of tuberculosis pathogenesis has benefited from powerful technological innovations, a more structured definition of latent and clinical manifestations of the disease, and the application of functional genomics approaches. This short review aims to summarize recent advances and to provide a link with results of previous human genetic studies of tuberculosis susceptibility.Recent findings: Transcriptomics has been shown to be a useful tool to predict progression from latency to clinical disease while functional genomics has traced the molecular events that link pathogen-triggered gene expression and host genetics. Resistance to infection with Mycobacterium tuberculosis has been revealed to be strongly impacted by host genetics. Host genomics of clinical disease has been shown to be most powerful when focusing on carefully selected clinical entities and possibly by considering host pathogen combinations.Summary: Future studies need to build on the latest molecular findings to define disease subtypes to successfully elucidate the human genetic component in tuberculosis pathogenesis.","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"5 3","pages":"125-131"},"PeriodicalIF":0.0,"publicationDate":"2017-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-017-0124-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35216695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 17

From Prognostication to Personalized Medicine: Classification of Tumors of the Central Nervous System (CNS) Using Chromosomal Microarrays 从预测到个性化医疗:使用染色体微阵列对中枢神经系统(CNS)肿瘤进行分类

IF 2.1

Current genetic medicine reports Pub Date : 2017-08-12 DOI: 10.1007/s40142-017-0127-4

A. Dubuc, A. Ligon

引用次数: 2

New in Newborn Screening 新生儿筛查

IF 2.1

Current genetic medicine reports Pub Date : 2017-08-01 DOI: 10.1007/s40142-017-0126-5

Damara Ortiz, U. Lichter-Konecki

引用次数: 0