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Current Genetic Medicine Reports

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https://www.readbyqxmd.com/read/30393588/mitochondrial-disease-advances-in-clinical-diagnosis-management-therapeutic-development-and-preventative-strategies
#1
Colleen C Muraresku, Elizabeth M McCormick, Marni J Falk
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...
June 2018: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/30386685/mitochondrial-genomics-a-complex-field-now-coming-of-age
#2
Elizabeth M McCormick, Colleen C Muraresku, Marni J Falk
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...
June 2018: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/29977663/genetic-modifiers-in-neurodegeneration
#3
Nimansha Jain, Alice S Chen-Plotkin
PURPOSE OF REVIEW: To review the evidence for genetic modifier effects in the neurodegenerative diseases Huntington's Disease (HD), Frontotemporal Lobar Degeneration (FTLD), Alzheimer's Disease (AD), and Parkinson's Disease (PD). RECENT FINDINGS: Increasingly, we understand human disease genetics less through the lens of single-locus/single-trait effects, and more through that of polygenic contributions to disease risk. In addition, specific examples of genetic modifier effects of the chromosome 7 gene TMEM106B on various target genes including those causal for Mendelian classes of FTLD - GRN and c9orf72 - have emerged from both genetic cohort studies and mechanistic examinations of biological pathways...
March 2018: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/30147999/using-high-throughput-animal-or-cell-based-models-to-functionally-characterize-gwas-signals
#4
REVIEW
Pierre Dourlen, Julien Chapuis, Jean-Charles Lambert
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...
2018: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/29564191/mitochondria-and-alzheimer-s-disease-the-role-of-mitochondrial-genetic-variation
#5
REVIEW
Perry G Ridge, John S K Kauwe
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...
2018: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/29805915/genomics-of-human-pulmonary-tuberculosis-from-genes-to-pathways
#6
Catherine M Stein, Lindsay Sausville, Christian Wejse, Rafal S Sobota, Nicola M Zetola, Philip C Hill, W Henry Boom, William K Scott, Giorgio Sirugo, Scott M Williams
Purpose of review: Tuberculosis (TB), caused by Mycobacterium tuberculosis (MTB), remains a major public health threat globally. Several lines of evidence support a role for host genetic factors in resistance/susceptibility to TB disease and MTB infection. However, results across candidate gene and genome-wide association studies (GWAS) are largely inconsistent, so a cohesive genetic model underlying TB risk has not emerged. Recent Findings: Despite the difficulties in identifying consistent genetic associations, genetic studies of TB and MTB infection have revealed a few well-documented loci...
December 2017: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/29732242/copy-number-variation-disorders
#7
Tamim H Shaikh
Purpose of Review: Copy number variation (CNV) disorders arise from the dosage imbalance of one or more gene(s), resulting from deletions, duplications or other genomic rearrangements that lead to the loss or gain of genetic material. Several disorders, characterized by multiple birth defects and neurodevelopmental abnormalities, have been associated with relatively large (>1 Mb) and often recurrent CNVs. CNVs have also been implicated in the etiology of neuropsychiatric disorders including autism and schizophrenia as well as other common complex diseases...
December 2017: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/29276656/primary-open-angle-glaucoma-genetics-in-african-americans
#8
Nicole A Restrepo, Jessica N Cooke Bailey
Purpose of review: Individuals of African descent are at highest risk for developing primary open-angle glaucoma (POAG), a devastating disease and major contributor of blindness worldwide. Currently, there is a large dearth of knowledge in this area despite a critical need for better understanding the underlying genetic and environmental factors afflicting this population. Here we highlight the current literature exploring the genetics of POAG in African Americans. Recent findings: Current studies have yet to replicate European POAG index variants (i...
December 2017: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/29201558/human-genomics-of-mycobacterium-tuberculosis-infection-and-disease
#9
Marianna Orlova, Erwin Schurr
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...
September 2017: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/29177110/advances-in-the-understanding-and-treatment-of-mitochondrial-fatty-acid-oxidation-disorders
#10
Eric S Goetzman
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...
September 2017: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/29057168/metabolic-dysregulation-in-amyotrophic-lateral-sclerosis-challenges-and-opportunities
#11
Archi Joardar, Ernesto Manzo, Daniela C Zarnescu
PURPOSE OF REVIEW: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease for which there is no cure and treatments are at best palliative. Several genes have been linked to ALS, which highlight defects in multiple cellular processes including RNA processing, proteostasis and metabolism. Clinical observations have identified glucose intolerance and dyslipidemia as key features of ALS however the causes of these metabolic alterations remain elusive. RECENT FINDINGS: Recent studies reveal that motor neurons and muscle cells may undergo cell type specific metabolic changes that lead to utilization of alternate fuels...
June 2017: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/29082115/using-mendelian-randomization-studies-to-assess-causality-and-identify-new-therapeutic-targets-in-cardiovascular-medicine
#12
Wei Zhao, Jung-Jin Lee, Asif Rasheed, Danish Saleheen
Integration of knowledge generated from genetic studies on intermediate biomarkers and CHD can provide a reliable approach to help assess causal pathways in coronary heart disease. Mendelian Randomization (MR) studies are a powerful tool to assess causal relevance of a range of pathways. These analyses use genetic variants as proxies for soluble biomarkers in association studies of disease risk. MR studies can provide unbiased estimates of causal effects and avoid distortions due to confounding factors arising later in life, because genetic variants are fixed at conception...
December 2016: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/29057167/pharmacogenetics-in-cardiovascular-medicine
#13
Sony Tuteja, Nita Limdi
PURPOSE OF REVIEW: Pharmacogenetics is an important component of precision medicine. Even within the genomic era, several challenges lie ahead in the road towards clinical implementation of pharmacogenetics in the clinic. This review will summarize the current state of knowledge regarding pharmacogenetics of cardiovascular drugs, focusing on those with the most evidence supporting clinical implementation- clopidogrel, warfarin and simvastatin. RECENT FINDINGS: There is limited translation of pharmacogenetics into clinical practice primarily due to the absence of outcomes data from prospective, randomized, genotype-directed clinical trials...
September 2016: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/27942422/expansion-of-the-rasopathies
#14
William E Tidyman, Katherine A Rauen
The Ras/mitogen activated protein kinase (MAPK) pathway is essential in the regulation of cell cycle, differentiation, growth, cell senescence and apoptosis, all of which are critical to normal development. A class of neurodevelopmental disorders, RASopathies, is caused by germline mutations in genes of the Ras/MAPK pathway. Through the use of whole exome sequencing and targeted sequencing of selected genes in cohorts of panel-negative RASopathy patients, several new genes have been identified. These include: RIT1, SOS2, RASA2, RRAS and SYNGAP1, that likely represent new, albeit rare, causative RASopathy genes...
September 2016: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/27867757/epigenetics-media-coverage-and-parent-responsibilities-in-the-post-genomic-era
#15
Martine Lappé
Environmental epigenetics is the study of how exposures and experiences can turn genes "on" or "off" without changing DNA sequence. By examining the influence that environmental conditions including diet, stress, trauma, toxins, and care can have on gene expression, this science suggests molecular connections between the environment, genetics, and how acquired characteristics may be inherited across generations. The rapid expansion of research in this area has attracted growing media attention. This coverage has implications for how parents and prospective parents understand health and their perceived responsibilities for children's wellbeing...
September 2016: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/27695660/psychiatric-genetics-in-child-custody-proceedings-ethical-legal-and-social-issues
#16
Maya Sabatello, S Appelbaum
This paper considers the ethical, legal, and social issues raised by the prospect of increasing use of psychiatric genetic data in child custody litigation. Although genetic tests cannot currently confirm a parent or child's psychiatric diagnosis, it is likely that as relevant findings emerge, they will be introduced in family courts to challenge parental capacity. Here, we draw on three projected, but plausible, scenarios for obtaining psychiatric data about parents -- imposed genetic testing, access to medical records, and genetic theft -- then consider the use of psychiatric genetic data of children, to highlight the issues that judges, child custody evaluators, and clinicians who may provide treatment for parents or children with mental health issues will need to consider...
September 2016: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/27722035/regulation-of-neuronal-gene-expression-by-local-axonal-translation
#17
Lulu I T Korsak, Molly E Mitchell, Katherine A Shepard, Michael R Akins
RNA localization is a key mechanism in the regulation of protein expression. In neurons, this includes the axonal transport of select mRNAs based on the recognition of axonal localization motifs in these RNAs by RNA binding proteins. Bioinformatic analyses of axonal RNAs suggest that selective inclusion of such localization motifs in mature mRNAs is one mechanism controlling the composition of the axonal transcriptome. The subsequent translation of axonal transcripts in response to specific stimuli provides precise spatiotemporal control of the axonal proteome...
March 2016: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/27134803/whole-genome-sequencing-and-newborn-screening
#18
Jeffrey R Botkin, Erin Rothwell
Clinical applications of next generation sequencing are growing at a tremendous pace. Currently the largest application of genetic testing in medicine occurs with newborn screening through state-mandated public health programs, and there are suggestions that sequencing could become a standard component of newborn care within the next decade. As such, newborn screening may appear to be a logical starting point to explore whole genome and whole exome sequencing on a population level. Yet, there are a number of ethical, social and legal implications about the use of a mandatory public health screening program that create challenges for the use of sequencing technologies in this context...
March 1, 2016: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/28286704/genetics-of-lipid-and-lipoprotein-disorders-and-traits
#19
REVIEW
Jacqueline S Dron, Robert A Hegele
PURPOSE OF REVIEW: Plasma lipids, namely cholesterol and triglyceride, and lipoproteins, such as low-density lipoprotein (LDL) and high-density lipoprotein, serve numerous physiological roles. Perturbed levels of these traits underlie monogenic dyslipidemias, a diverse group of multisystem disorders. We are on the verge of having a relatively complete picture of the human dyslipidemias and their components. RECENT FINDINGS: Recent advances in genetics of plasma lipids and lipoproteins include the following: (1) expanding the range of genes causing monogenic dyslipidemias, particularly elevated LDL cholesterol; (2) appreciating the role of polygenic effects in such traits as familial hypercholesterolemia and combined hyperlipidemia; (3) accumulating a list of common variants that determine plasma lipids and lipoproteins; (4) applying exome sequencing to identify collections of rare variants determining plasma lipids and lipoproteins that via Mendelian randomization have also implicated gene products such as NPC1L1 , APOC3 , LDLR , APOA5 , and ANGPTL4 as causal for atherosclerotic cardiovascular disease; and (5) using naturally occurring genetic variation to identify new drug targets, including inhibitors of apolipoprotein (apo) C-III, apo(a), ANGPTL3, and ANGPTL4...
2016: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/27933223/epigenetic-editing-on-the-verge-of-reprogramming-gene-expression-at-will
#20
REVIEW
David Cano-Rodriguez, Marianne G Rots
Genome targeting has quickly developed as one of the most promising fields in science. By using programmable DNA-binding platforms and nucleases, scientists are now able to accurately edit the genome. These DNA-binding tools have recently also been applied to engineer the epigenome for gene expression modulation. Such epigenetic editing constructs have firmly demonstrated the causal role of epigenetics in instructing gene expression. Another focus of epigenome engineering is to understand the order of events of chromatin remodeling in gene expression regulation...
2016: Current Genetic Medicine Reports
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