The Role of Mediator Complex Subunit 12 in Leiomyoma Biology
AbstractPurpose of ReviewUterine Leiomyomas are one of the most common clinically relevant solid tumors occurring in women of reproductive age. Until recently not much was known about the genetic etiology of these tumors. This review focusses on some of the past and present findings which have greatly contributed to a better understanding of the genetics of uterine leiomyomas.Recent FindingsNext generation sequencing has shown thatMED12 exon 2 variants are recurrently mutated in about 70 % of human uterine leiomyomas, implying a role ofMED12 in leiomyoma biology. We further discuss the development ofMed12 exon 2 variant ...
Source: Current Genetic Medicine Reports - October 25, 2016 Category: Genetics & Stem Cells Source Type: research
MeCP2 … Nature’s Wonder Protein or Medicine’s Most Feared One?
AbstractMeCP2 is an intrinsically disordered, multidomain, multifunctional protein able to interact with several binding partners (dsDNA, ssDNA, RNA, transcription-related proteins, nucleosomes, etc.). MeCP2 is highly expressed in maturing neurons, and a correct dosage is instrumental for appropriate neuronal development and function, as well as activity-dependent synaptic plasticity. The different interactions confer MeCP2 with its manifold capabilities and functions. MeCP2 function is regulated at different levels, but post-translational modifications represent one of its most versatile regulatory mechanisms. Covalent mo...
Source: Current Genetic Medicine Reports - October 5, 2016 Category: Genetics & Stem Cells Source Type: research
Epigenetic Editing: On the Verge of Reprogramming Gene Expression at Will
AbstractGenome 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. Groundbreaking approaches in this field are beginning...
Source: Current Genetic Medicine Reports - September 30, 2016 Category: Genetics & Stem Cells Source Type: research
Tissue Specificity of Gene Expression
AbstractTissue-specific patterns of gene expression are fundamental to establishing and preserving tissue identity and function, and dysregulation of these patterns underlies a wide range of diseases. Over the past few years, several large-scale efforts driven by the advent of RNA sequencing have established resources of gene expression measurements, across both tissues and individuals, toward building a comprehensive understanding of the specificity and variability of gene expression. We summarize these resources, review insights gained into the tissue specificity of gene expression across transcript classes, including pr...
Source: Current Genetic Medicine Reports - September 28, 2016 Category: Genetics & Stem Cells Source Type: research
Using Mendelian Randomization Studies to Assess Causality and Identify New Therapeutic Targets in Cardiovascular Medicine
AbstractIntegration 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. MR studies have provided evidence pointin...
Source: Current Genetic Medicine Reports - September 9, 2016 Category: Genetics & Stem Cells Source Type: research
Integrative Networks Illuminate Biological Factors Underlying Gene –Disease Associations
AbstractPurpose of ReviewIntegrative networks combine multiple layers of biological data into a model of how genes work together to carry out cellular processes. Such networks become more valuable as they become more context-specific, for example, by capturing how genes work together in a certain tissue or cell type. We discuss the applications of these networks to the study of human disease.Recent FindingsOnce constructed, these networks provide the means to identify broad biological patterns underlying genes associated with complex traits and diseases. We cover the different types of integrative networks that currently e...
Source: Current Genetic Medicine Reports - September 8, 2016 Category: Genetics & Stem Cells Source Type: research
Genetic Testing as Part of a Plan for Preemptive Suicide in the Face of Impending Dementia
Abstract
Genetic testing is an important factor in an array of biomarkers that help patients and clinicians to estimate an individual’s risk for developing Late-Onset Alzheimer’s Disease. This array of tests makes more feasible the possibility of choosing to end one’s life before one becomes demented. These new possibilities raise important ethical issues. Should clinicians, researchers, and regulators seek to erect roadblocks in the path of individuals who seek this information, in a paternalistic attempt to thwart rational suicide? Do volunteers in research have a right to the “return of researc...
Source: Current Genetic Medicine Reports - July 10, 2016 Category: Genetics & Stem Cells Source Type: research
Expansion of the RASopathies
Abstract
Purpose of Review
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.
...
Source: Current Genetic Medicine Reports - June 30, 2016 Category: Genetics & Stem Cells Source Type: research
Psychiatric Genetics in Child Custody Proceedings: Ethical, Legal, and Social Issues
Abstract
Purpose of Review
Although the current predictive and diagnostic utility of genetic tests for psychiatric disorders is limited, as psychiatric genetic data continue to emerge, they may be introduced in child custody proceedings as part of challenges to parental capacity. This prospect raises ethical, legal, and social issues that judges, custody evaluators, and clinicians will be forced to confront.
Recent Findings
The projected, but plausible, scenarios for obtaining psychiatric...
Source: Current Genetic Medicine Reports - June 29, 2016 Category: Genetics & Stem Cells Source Type: research
Genetic Counseling for Autism Spectrum Disorder in an Evolving Theoretical Landscape
Abstract
Purpose of Review
Psychiatry is steadily moving toward a new conceptualization of brain disorders that blurs long-held diagnostic distinctions among neurodevelopmental and psychiatric conditions, including autism. Genomic discoveries are driving these changing perceptions, yet there has so far been minimal impact on traditional genetic counseling practices that continue to view autism through the lens of a dichotomous, all-or-none risk model.
Recent Findings
High rates of comorbi...
Source: Current Genetic Medicine Reports - June 23, 2016 Category: Genetics & Stem Cells Source Type: research
RNA Sequencing and Genetic Disease
Abstract
Purpose of Review
Next-generation sequencing is a revolutionary approach for highly accurate identification of gene associations with specific human disease phenotypes. RNA sequencing (RNA-seq) holds great promise for identifying distinct gene expression “signatures” for the detection, prognosis, and chemosensitivity of human disease. However, this technique has yet to be adopted as a standard medical practice.
Recent Findings
The recent emergence of high-throughput, next-gen...
Source: Current Genetic Medicine Reports - June 20, 2016 Category: Genetics & Stem Cells Source Type: research
Integration of Clinical Genetic Testing in Cardiovascular Care
Abstract
Purpose of Review
Knowledge of genetic etiologies for inherited cardiovascular disease has expanded in recent years giving providers the potential to tailor medical management and family screening based on a patient’s genotype for some conditions. This paper highlights recent advances in Mendelian inherited cardiovascular disease such as Marfan syndrome, hypertrophic cardiomyopathy, and familial hypercholesterolemia.
Recent Findings
Genetic testing has gone through a rapid evol...
Source: Current Genetic Medicine Reports - June 19, 2016 Category: Genetics & Stem Cells Source Type: research
Metaphase Cytogenetics in Chronic Lymphocytic Leukemia
Abstract
Purpose of Review
Chronic lymphocytic leukemia (CLL) is a highly heterogeneous disease and biomarkers are integral to predicting outcomes. In the past, cytogenetics in CLL typically utilized fluorescence in situ hybridization to detect abnormalities due to the low mitotic index of CLL hampering metaphase karyotyping. Recently, stimulation of CLL cells with CpG oligodeoxynucleotides has largely overcome this challenge.
Recent Findings
CpG oligodeoxynucleotides enhance the detectio...
Source: Current Genetic Medicine Reports - June 16, 2016 Category: Genetics & Stem Cells Source Type: research
Pharmacogenetics in Cardiovascular Medicine
Abstract
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 tr...
Source: Current Genetic Medicine Reports - June 15, 2016 Category: Genetics & Stem Cells Source Type: research
Epigenetics, Media Coverage, and Parent Responsibilities in the Post-Genomic Era
Abstract
Purpose of Review
This review provides insight into epigenetic research, its coverage in the media, and the social and ethical implications of this science for patients and clinicians. 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, epigenetic research suggests molecular connections between the environment, genetics, and how acquired...
Source: Current Genetic Medicine Reports - June 13, 2016 Category: Genetics & Stem Cells Source Type: research
