Current genetic medicine reports最新文献_第7页

Correction to: The Interplay Between the Microbiome and Cardiovascular Risk 更正：微生物组和心血管风险之间的相互作用

IF 2.1

Current genetic medicine reports Pub Date : 2018-06-28 DOI: 10.1007/s40142-018-0144-y

Brè A. Minniefield, S. Aslibekyan

引用次数: 0

Mitochondrial Genomics: A complex field now coming of age. 线粒体基因组学:一个正在成熟的复杂领域。

Current genetic medicine reports Pub Date : 2018-06-01 Epub Date: 2018-05-02 DOI: 10.1007/s40142-018-0137-x

Elizabeth M McCormick, Colleen C Muraresku, Marni J Falk

{"title":"Mitochondrial Genomics: A complex field now coming of age.","authors":"Elizabeth M McCormick, Colleen C Muraresku, Marni J Falk","doi":"10.1007/s40142-018-0137-x","DOIUrl":"https://doi.org/10.1007/s40142-018-0137-x","url":null,"abstract":"Purpose of review: The groundwork for mitochondrial medicine was laid 30 years ago with identification of the first disease-causing mitochondrial DNA (mtDNA) mutations in 1988. Three decades later, mutations in nearly 300 genes involving every possible mode of inheritance within both nuclear and mitochondrial genomes are now recognized to collectively comprise the largest class of inherited metabolic disease affecting at least 1 in 4,300 individuals across all ages. Significant progress has been made in recent years to improve understanding of mitochondrial biology and disease pathophysiology.Recent findings: Markedly improved understanding of the highly diverse molecular etiologies of multi-systemic phenotypes in primary mitochondrial disease has resulted from massively parallel genomic sequencing technologies and improved bioinformatic resources that enable identification in individual patients of their disease's precise genetic etiology. Key informatics resources of particular utility to the mitochondrial disease genomics community have been developed, including: (1) Mitocarta 2.0 repository of 1200+ verified mitochondria-localized proteins, (2) MITOMAP Web resource of curated mtDNA genome variants, and (3) Mitochondrial Disease Sequence Data Resource (MSeqDR) that centralizes Web curation and annotation of mitochondrial disease genes and variants in both genomes, ontology-defined phenotypes, and access to many analytic tools to support genomic data mining and interpretation. Gene and mutation-based disease categorization has proven particularly useful to identify the full clinical spectrum of disease that may affect a given individual.Summary: Extensive genomic advances, both in technologic platforms and bioinformatics resources, have facilitated dramatic improvement in the accurate recognition and understanding of primary mitochondrial disease.","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"6 2","pages":"52-61"},"PeriodicalIF":0.0,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-018-0137-x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36687179","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: 34

Nutritional Genomics of Cardiovascular Disease. 心血管疾病的营养基因组学。

IF 2.1

Current genetic medicine reports Pub Date : 2018-06-01 Epub Date: 2018-04-30 DOI: 10.1007/s40142-018-0143-z

V Saroja Voruganti

{"title":"Nutritional Genomics of Cardiovascular Disease.","authors":"V Saroja Voruganti","doi":"10.1007/s40142-018-0143-z","DOIUrl":"10.1007/s40142-018-0143-z","url":null,"abstract":"Purpose: Cardiovascular disease (CVD) is the leading cause of death in the United States and globally. There is significant evidence implicating genetic and dietary factors in the development and progression of CVD and its risk factors. Nutritional genomics is a comparatively new field of science that focuses on the relationship of individual genetic variation with response to nutrition. The purpose of this review is to summarize recent progress, in the field of nutritional genomics as it relates to cardiovascular disease.Recent findings: Evidence from recent studies has shown significant effects of gene-diet interactions on CVD biomarkers and the development and progression of CVD. The cardiovascular effects of gene-nutrient interactions with respect to macronutrients and genes such as FTO, ACE, PPARs, TCF7L2, BDNF, MC4R, APOAs, FADS, etc. have shown consistent results across age groups and populations whereas gene-nutrient interaction effects of other genes have only been limited to specific ages, genders or populations and need to validated and confirmed.Summary: The identification of individual genetic variation influencing diet-related CVD risk is important and may inform future nutritional intervention studies. Although there is ample scientific evidence indicating that the genetic susceptibility to CVD can be modified by diet, we are still not at a stage where this information is easily translated into dietary plans. Thus, there is a need for better approaches to achieve precision in dietary data collection and streamline computational approaches for meaningful and effective nutritional interventions.","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"6 2","pages":"98-106"},"PeriodicalIF":2.1,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6300156/pdf/nihms964000.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36800388","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

Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies. 线粒体疾病：临床诊断、管理、治疗发展和预防策略的进展。

Current genetic medicine reports Pub Date : 2018-06-01 Epub Date: 2018-05-02 DOI: 10.1007/s40142-018-0138-9

Colleen C Muraresku, Elizabeth M McCormick, Marni J Falk

{"title":"Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies.","authors":"Colleen C Muraresku, Elizabeth M McCormick, Marni J Falk","doi":"10.1007/s40142-018-0138-9","DOIUrl":"10.1007/s40142-018-0138-9","url":null,"abstract":"Purpose of review: Primary mitochondrial disease encompasses an impressive range of inherited energy deficiency disorders having highly variable molecular etiologies as well as clinical onset, severity, progression, and response to therapies of multi-system manifestations. Significant progress has been made in primary mitochondrial disease diagnostic approaches, clinical management, therapeutic options, and preventative strategies that are tailored to major mitochondrial disease phenotypes and subclasses.Recent findings: The extensive phenotypic pleiotropy of individual mitochondrial diseases from an organ-based perspective is reviewed. Improved consensus on standards for mitochondrial disease patient care are being complemented by emerging therapies that target specific molecular subtypes of mitochondrial disease. Reproductive counseling options now include preimplantation genetic diagnosis at the time of in vitro fertilization for familial mutations in nuclear genes and some mtDNA disorders. Mitochondrial replacement technologies have promise for some mtDNA disorders, although practical and societal challenges remain to allow their further research analyses and clinical utilization.Summary: A dramatic increase has occurred in recent years in the recognition, understanding, treatment options, and preventative strategies for primary mitochondrial disease.","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"6 2","pages":"62-72"},"PeriodicalIF":0.0,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-018-0138-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36694228","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: 36

Hereditary Lung Cancer Risk: Recent Discoveries and Implications for Genetic Counseling and Testing 遗传性肺癌风险:最近的发现和遗传咨询和测试的意义

IF 2.1

Current genetic medicine reports Pub Date : 2018-05-11 DOI: 10.1007/s40142-018-0140-2

Diane R. Koeller, Ruthia Chen, G. Oxnard

引用次数: 4

Getting to the Heart of the Matter: Lysosomal Storage Diseases That Manifest a Cardiac Phenotype 进入问题的核心:表现为心脏表型的溶酶体贮积性疾病

IF 2.1

Current genetic medicine reports Pub Date : 2018-05-03 DOI: 10.1007/s40142-018-0135-z

Dawn J Laney, D. Gupta, S. B. Wechsler

引用次数: 3

Patient Care Situations Benefiting from Pharmacogenomic Testing 受益于药物基因组学测试的患者护理情况

IF 2.1

Current genetic medicine reports Pub Date : 2018-04-28 DOI: 10.1007/s40142-018-0136-y

Rachel Mills, J. Eichmeyer, Leah M. Williams, Julie A. Muskett, T. Schmidlen, Kristin A. Maloney, A. Lemke

引用次数: 1

The Interplay Between the Microbiome and Cardiovascular Risk 微生物组与心血管风险之间的相互作用

IF 2.1

Current genetic medicine reports Pub Date : 2018-04-28 DOI: 10.1007/s40142-018-0142-0

Brè A. Minnifield, S. Aslibekyan

引用次数: 3

Genetics of Epilepsy in the Era of Precision Medicine: Implications for Testing, Treatment, and Genetic Counseling 精准医学时代癫痫的遗传学：对检测、治疗和遗传咨询的启示

IF 2.1

Current genetic medicine reports Pub Date : 2018-04-24 DOI: 10.1007/s40142-018-0139-8

B. Sheidley, Lacey Smith, K. Helbig

引用次数: 4

How Can We Reach At-Risk Relatives? Efforts to Enhance Communication and Cascade Testing Uptake: a Mini-Review 我们如何联系有风险的亲属?加强沟通和级联测试吸收的努力:一个小回顾

IF 2.1

Current genetic medicine reports Pub Date : 2018-04-19 DOI: 10.1007/s40142-018-0134-0

R. Schwiter, A. Rahm, Janet L. Williams, A. Sturm

引用次数: 26